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 OR2M2 391194 broad.mit.edu 37 1 248344094 248344094 + Silent SNP G G A rs140026971 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:248344094G>A ENST00000359682.2 + 1 807 c.807G>A c.(805-807)acG>acA p.T269T NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T269T(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTCCCCAACGCAGGACAAGA 0.502000 107 680 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 12 116 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60503309 60503309 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:60503309C>T ENST00000360469.5 + 12 1921 c.1833C>T c.(1831-1833)aaC>aaT p.N611N CDH4_ENST00000543233.1_Silent_p.N537N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 611 Cadherin 4. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TCAACGACAACGCCCCTGAGC 0.627000 110 876 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281106 152281106 + Missense_Mutation SNP G G A rs146352383 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:152281106G>A ENST00000368799.1 - 3 6291 c.6256C>T c.(6256-6258)Cgt>Tgt p.R2086C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2086 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R2086C(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCTGAACGTCCAGAGCTT 0.562000 Ichthyosis 7 990 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62887161 62887161 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:62887161G>A ENST00000281156.4 - 2 426 c.148C>T c.(148-150)Ctt>Ttt p.L50F NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) ATGACATCAAGATACTTCTTT 0.338000 17 163 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211512 78211512 + RNA SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:78211512C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GTTCCTTGCTCAGGACACTCA 0.557000 6 560 5.9392e-07 6.20916e-07 1 1 0 SFMBT1 51460 broad.mit.edu 37 3 52939159 52939159 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:52939159G>A ENST00000394752.3 - 21 2976 c.2594C>T c.(2593-2595)gCc>gTc p.A865V SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 865 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TTCTCAGTTGGCAAACTGCTC 0.448000 5 529 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043491 30043491 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:30043491C>T ENST00000244360.6 - 1 173 c.76G>A c.(76-78)Gca>Aca p.A26T RNF39_ENST00000376751.3_Missense_Mutation_p.A26T NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 26 cytoplasm zinc ion binding TTAACTTTTGCCGCTTTCCGC 0.602000 5 395 0 0 1 0 0 TMEM186 25880 broad.mit.edu 37 16 8890319 8890319 + Silent SNP C C T rs149142450 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:8890319C>T ENST00000333050.6 - 2 165 c.132G>A c.(130-132)tcG>tcA p.S44S TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 44 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 GTTTCTCCTTCGAGATGGGTG 0.532000 44 414 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31388072 31388072 + Missense_Mutation SNP G G A rs77767360 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31388072G>A ENST00000328111.2 + 17 2194 c.1873G>A c.(1873-1875)Gtg>Atg p.V625M DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 625 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TATCAAATACGTGAACGACGT 0.493000 63 406 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46021250 46021250 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:46021250C>T ENST00000296137.2 - 4 440 c.235G>A c.(235-237)Gcc>Acc p.A79T FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 79 RUN. transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TTCACCTTGGCCAGGCAGGCA 0.517000 5 412 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34118020 34118020 + Missense_Mutation SNP G G A rs141072916 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr21:34118020G>A ENST00000331923.4 - 12 2122 c.1933C>T c.(1933-1935)Cgt>Tgt p.R645C PAXBP1_ENST00000290178.4_Missense_Mutation_p.R645C NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TCAAAGTCACGACATTTTGCC 0.363000 40 290 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65943130 65943130 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:65943130G>A ENST00000261892.6 + 7 2930 c.2643G>A c.(2641-2643)gaG>gaA p.E881E SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Silent_p.E863E NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 881 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 aggaggaagaggaggaggagg 0.562000 4 132 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122817261 122817261 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:122817261C>A ENST00000227349.2 + 6 1987 c.1690C>A c.(1690-1692)Ctc>Atc p.L564I C11orf63_ENST00000531316.1_Missense_Mutation_p.L564I NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 564 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AGATTCATGGCTCACCCAGAT 0.458000 5 375 1 1 1 1 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 4 158 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 299 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193693 62193693 + Silent SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:62193693C>A ENST00000467148.1 - 9 6414 c.6345G>T c.(6343-6345)ccG>ccT p.P2115P HELZ2_ENST00000427522.2_Silent_p.P1546P NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGGTGACCAGCGGGGACGCCT 0.682000 10 75 2.17888e-05 2.26322e-05 1 1 0 SIGLEC11 114132 broad.mit.edu 37 19 50462043 50462043 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:50462043C>T ENST00000447370.2 - 7 1310 c.1220G>A c.(1219-1221)gGa>gAa p.G407E SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 407 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CACGGTCTGTCCCCACCGGGT 0.682000 5 341 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604065 54604065 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:54604065C>T ENST00000474759.1 + 8 870 c.822C>T c.(820-822)atC>atT p.I274I CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 274 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GTCTGACTATCGCGAAGCAAA 0.463000 91 582 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 301 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212491 100212491 + Splice_Site SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:100212491C>T ENST00000393950.2 + 4 795 c.511_splice c.e4-1 p.H171_splice MOSPD3_ENST00000223054.4_Splice_Site_p.H171_splice|MOSPD3_ENST00000424091.2_Splice_Site_p.H161_splice|MOSPD3_ENST00000379527.2_Splice_Site_p.H171_splice NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 171 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTTTCTCAGACCCCCGCCAGC 0.577000 27 191 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937327 18937327 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:18937327C>T ENST00000446231.2 - 1 449 c.37G>A c.(37-39)Ggc>Agc p.G13S SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 13 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgccgctgcTCAGC 0.736000 5 69 0 0 1 0 0 MLK4 0 broad.mit.edu 37 1 233514924 233514924 + Nonsense_Mutation SNP T T G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:233514924T>G ENST00000366624.3 + 9 2433 c.2172T>G c.(2170-2172)taT>taG p.Y724* MLK4_ENST00000366622.1_Nonsense_Mutation_p.Y170* NM_032435.2 NP_115811.2 CAGCTCTGTATGGGTGCACCG 0.537000 42 290 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55144109 55144109 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:55144109C>A ENST00000396331.1 + 7 1213 c.856C>A c.(856-858)Cct>Act p.P286T LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 286 Ig-like C2-type 3. 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) CACCCTGGGCCCTGTGAGCCG 0.632000 HNSCC(37;0.09) 25 357 1.77063e-15 1.88789e-15 1 1 0 IGHV4-34 0 broad.mit.edu 37 14 106829684 106829684 + RNA SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:106829684G>A ENST00000390616.2 - 0 309 CTGATATGGTGACTCGACTCT 0.567000 14 997 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12969441 12969441 + Missense_Mutation SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:12969441G>C ENST00000251472.4 + 12 1293 c.1254G>C c.(1252-1254)caG>caC p.Q418H MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 418 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 AGATCCAGCAGGCCTTTGTGG 0.587000 14 216 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140229647 140229647 + Silent SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:140229647T>C ENST00000378122.3 + 1 2291 c.1567T>C c.(1567-1569)Ttg>Ctg p.L523L PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGCCGTTGGACCACGA 0.682000 5 829 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42821420 42821420 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:42821420G>A ENST00000314073.5 + 8 2166 c.1990G>A c.(1990-1992)Gca>Aca p.A664T GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T GLTSCR1-like CTTAGGAACCGCACAACCACA 0.428000 6 315 0 0 1 0 0 RIT1 6016 broad.mit.edu 37 1 155870301 155870301 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:155870301G>A ENST00000368323.3 - 6 742 c.538C>T c.(538-540)Cgg>Tgg p.R180W RIT1_ENST00000539040.1_Missense_Mutation_p.R144W|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.R197W NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 180 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CGTATCTCCCGTACAAGGGCA 0.453000 6 831 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 15 48 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6013025 6013025 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:6013025G>A ENST00000303657.5 - 8 1020 c.871C>T c.(871-873)Cgg>Tgg p.R291W CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGCTGCTGCCGCATGGCCATG 0.622000 7 868 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470671 10470671 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:10470671C>T ENST00000382483.3 - 4 1160 c.937G>A c.(937-939)Gtc>Atc p.V313I NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 313 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCATGCGGACCTTCTTCTTC 0.657000 80 471 0 0 1 0 0 TRGV5 0 broad.mit.edu 37 7 38389212 38389212 + RNA SNP G G T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:38389212G>T ENST00000390344.2 - 0 295 AGATGACCTAGTCGGCCTCGT 0.473000 40 316 1.04594e-18 1.13018e-18 1 1 0 NAGPA 51172 broad.mit.edu 37 16 5077996 5077996 + Nonsense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:5077996C>A ENST00000312251.3 - 6 1130 c.1111G>T c.(1111-1113)Gga>Tga p.G371* RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371* NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 371 EGF-like. carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GTGCACAGTCCGTGCTGGCTG 0.687000 22 166 1.55469e-16 1.66871e-16 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 443 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 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.Q2742Q(2) 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) agcagcaacagcagcagcagc 0.597000 8 159 0 0 1 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76968673 76968673 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:76968673G>A ENST00000262776.3 - 6 1051 c.743C>T c.(742-744)gCc>gTc p.A248V LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 248 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GAGGAGGATGGCAAAGAGGCT 0.617000 27 225 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551562 1551562 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:1551562C>A ENST00000381605.4 - 4 1037 c.973G>T c.(973-975)Gat>Tat p.D325Y SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 325 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 AGCACCACATCGTCCCTGTGG 0.567000 53 336 1.46156e-29 1.60075e-29 1 1 0 KALRN 8997 broad.mit.edu 37 3 123813627 123813627 + Translation_Start_Site SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:123813627G>A ENST00000360013.3 + 0 70 KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_De_novo_Start_InFrame|KALRN_ENST00000240874.3_De_novo_Start_InFrame NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCGAGTCAGCGGTGGTGGGAT 0.602000 14 93 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641485 156641485 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:156641485G>A ENST00000368223.3 - 4 2627 c.2495C>T c.(2494-2496)gCg>gTg p.A832V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 832 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCTTGTCCCGCAGACTTCAG 0.413000 8 785 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923961 34923961 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr21:34923961C>T ENST00000356577.4 + 3 2899 c.2424C>T c.(2422-2424)acC>acT p.T808T SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 808 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.T808T(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTTAGCAACCAGCTCCATGG 0.512000 8 1059 0 0 1 0 0 MRPL16 54948 broad.mit.edu 37 11 59573897 59573897 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:59573897G>A ENST00000300151.4 - 4 892 c.679C>T c.(679-681)Cgg>Tgg p.R227W NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 227 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 AGTACTTTCCGTATGCCCAGC 0.468000 5 645 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323657 41323657 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:41323657C>T ENST00000551295.2 + 7 673 c.556C>T c.(556-558)Cgg>Tgg p.R186W CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 186 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AATGGATAAACGGCGATTTGT 0.378000 68 424 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33683131 33683131 + Nonsense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:33683131C>A ENST00000504830.1 - 5 1242 c.907G>T c.(907-909)Gaa>Taa p.E303* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 303 Peptidase M12B.|Poly-Glu. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACCTCTTCTTCTTCGAGTAGA 0.428000 HNSCC(64;0.19) 23 151 1.12875e-08 1.19559e-08 1 1 0 HMGB2 3148 broad.mit.edu 37 4 174253279 174253279 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:174253279C>T ENST00000296503.5 - 5 1455 c.582G>A c.(580-582)gaG>gaA p.E194E HMGB2_ENST00000446922.2_Silent_p.E194E|HMGB2_ENST00000438704.2_Silent_p.E194E P26583 HMGB2_HUMAN high mobility group box 2 194 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) cttcttcttcctcctcctcct 0.473000 6 418 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36044045 36044045 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:36044045G>A ENST00000262623.3 - 18 2673 c.2645C>T c.(2644-2646)aCg>aTg p.T882M NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 882 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGCCATTGCCGTGAAGTAGTC 0.602000 5 435 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131569149 131569149 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:131569149G>A ENST00000261654.5 + 15 2171 c.1612G>A c.(1612-1614)Gtc>Atc p.V538I GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 538 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) CACCTACTCCGTCTGCCGCTG 0.622000 40 199 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890170 139890170 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:139890170C>T ENST00000303045.6 - 3 927 c.481G>A c.(481-483)Gcc>Acc p.A161T COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 161 Poly-Ala.|VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCGCCGCGGCGTCCAGCACC 0.716000 HNSCC(7;0.00092) 11 72 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 7 400 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255484 127255484 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:127255484G>A ENST00000341640.2 - 1 296 c.91C>T c.(91-93)Cgg>Tgg p.R31W PAX4_ENST00000338516.3_Missense_Mutation_p.R39W|PAX4_ENST00000378740.2_Missense_Mutation_p.R31W|PAX4_ENST00000463946.1_5'UTR NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 39 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R31W(1) cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCACAGGGCCGCATTCCACTG 0.582000 6 444 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19316053 19316053 + Silent SNP G G A rs142456632 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:19316053G>A ENST00000454498.2 - 5 1748 c.735C>T c.(733-735)ttC>ttT p.F245F CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F245F NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 245 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGATGGGGCCGAATGGTCGAA 0.458000 7 879 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18171668 18171668 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:18171668C>T ENST00000388870.2 + 7 733 c.492C>T c.(490-492)gcC>gcT p.A164A KDM1B_ENST00000297792.5_Silent_p.A164A|KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 164 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 CACAGATAGCCAAGACTTATC 0.363000 14 287 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 292 0 0 1 0 0 C3orf27 23434 broad.mit.edu 37 3 128292432 128292432 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:128292432C>T ENST00000356020.2 - 3 1107 c.141G>A c.(139-141)aaG>aaA p.K47K NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 47 large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) TGCCTAGAAGCTTCCAACCAC 0.627000 35 210 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873025 55873025 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:55873025C>T ENST00000313503.1 + 1 507 c.507C>T c.(505-507)taC>taT p.Y169Y NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 169 Y -> C (in dbSNP:rs2449148). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGCATTTCTACGACTCAAACG 0.423000 HNSCC(53;0.14) 6 715 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518712 108518712 + Missense_Mutation SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:108518712T>C ENST00000375915.2 - 1 371 c.233A>G c.(232-234)cAg>cGg p.Q78R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 78 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgctgctgctgccgctgctg 0.677000 6 252 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 7 842 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31984682 31984682 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31984682C>T ENST00000357886.4 - 2 342 c.189G>A c.(187-189)ccG>ccA p.P63P CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.P63P|CDK5RAP1_ENST00000339269.5_Silent_p.P63P Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 63 CDK5 activation inhibition. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GTTGAAAAGTCGGTCCAGCAG 0.517000 65 328 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 573 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31388677 31388677 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31388677G>A ENST00000328111.2 + 18 2263 c.1942G>A c.(1942-1944)Gga>Aga p.G648R DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 648 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTGATTGGCGGAAGCCCATG 0.522000 6 884 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79682550 79682550 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:79682550C>T ENST00000331531.5 + 3 376 c.256C>T c.(256-258)Cgg>Tgg p.R86W SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 86 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CGAGACTGTGCGGGACCGTGT 0.697000 8 1088 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149907823 149907823 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:149907823G>A ENST00000261797.6 + 3 1473 c.971G>A c.(970-972)gGc>gAc p.G324D NDST1_ENST00000523767.1_Missense_Mutation_p.G324D NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 324 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTTCGTGGGCAAGGAGGGC 0.612000 5 345 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137148251 137148251 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:137148251G>A ENST00000424189.2 - 28 3011 c.2782C>T c.(2782-2784)Cac>Tac p.H928Y DGKI_ENST00000288490.5_Missense_Mutation_p.H915Y|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y O75912 DGKI_HUMAN diacylglycerol kinase, iota 915 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ACGCGGGAGTGGCTGAGATCT 0.537000 46 226 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9011714 9011714 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:9011714C>T ENST00000319474.2 + 3 516 c.492C>T c.(490-492)agC>agT p.S164S CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 43 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GGGCTTGCAGCGGCTCCCGCC 0.577000 13 138 0 0 1 0 0 PLEKHA4 0 broad.mit.edu 37 19 49340735 49340735 + Missense_Mutation SNP C C G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:49340735C>G ENST00000263265.6 - 20 2706 c.2151G>C c.(2149-2151)gaG>gaC p.E717D PLEKHA4_ENST00000355496.5_3'UTR NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 717 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGGAGGGGTCTCCTGGCGCG 0.672000 5 322 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105363099 105363099 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr10:105363099G>A ENST00000369774.4 - 15 2152 c.1876C>T c.(1876-1878)Cgg>Tgg p.R626W SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 626 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GCATATGGCCGGAAGCCCTCA 0.622000 5 697 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31600712 31600712 + Splice_Site SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31600712C>A ENST00000170150.3 + 4 502 c.308_splice c.e4+1 p.R103_splice NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 103 extracellular region lipid binding CAAGGTCTTTCGGTGAGCGGA 0.562000 5 495 0.184627 0.185781 1 1 0 ATP4A 495 broad.mit.edu 37 19 36051809 36051809 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:36051809G>A ENST00000262623.3 - 5 474 c.446C>T c.(445-447)gCt>gTt p.A149V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 149 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GACAACCACAGCAATGAGAGC 0.587000 5 387 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176562876 176562876 + Missense_Mutation SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:176562876T>C ENST00000439151.2 + 2 817 c.772T>C c.(772-774)Ttt>Ctt p.F258L NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 258 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCCAGCCCCCTTTTCACTAGG 0.398000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 4 267 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145109606 145109606 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:145109606G>A ENST00000426825.1 - 19 2625 c.2544C>T c.(2542-2544)ttC>ttT p.F848F OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 848 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TGGCCACATAGAACACAGGCC 0.667000 29 203 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140130438 140130438 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:140130438G>A ENST00000538474.1 + 13 1594 c.1370G>A c.(1369-1371)gGc>gAc p.G457D SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 457 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AACCTGGCCGGCATCCTGCTG 0.711000 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 487 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T365T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 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 p.T408T(1) 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 CACCCACCACTCCCAAGGAGC 0.662000 16 431 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:21961062T>A ENST00000405508.1 + 8 1563 c.1287T>A c.(1285-1287)gcT>gcA p.A429A TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A O94842 TOX4_HUMAN TOX high mobility group box family member 4 429 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGCAGCAGCTGCTGCTGCTG 0.582000 10 788 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 10 66 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100365534 100365534 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:100365534G>A ENST00000273352.3 + 10 1500 c.1232G>A c.(1231-1233)cGc>cAc p.R411H GPR128_ENST00000475887.1_Missense_Mutation_p.R116H NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 411 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CTGCGCTGCCGCTGCAACCAT 0.418000 5 294 0 0 1 0 0 UGT1A10 0 broad.mit.edu 37 2 234545974 234545974 + Missense_Mutation SNP T T G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:234545974T>G ENST00000344644.5 + 1 875 c.806T>G c.(805-807)aTg>aGg p.M269R UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) ATGCCCAACATGATCTTCATT 0.433000 7 1211 0 0 1 0 0 RRP7B 0 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 4 123 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111853203 111853203 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:111853203G>A ENST00000440460.2 + 8 1204 c.907G>A c.(907-909)Gga>Aga p.G303R DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 304 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AATGATATCAGGACTACAGGT 0.368000 6 71 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 5 389 0 0 1 0 0 PRODH 5625 broad.mit.edu 37 22 18910340 18910340 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:18910340G>A ENST00000357068.6 - 6 1104 c.839C>T c.(838-840)gCg>gTg p.A280V PRODH_ENST00000334029.2_Missense_Mutation_p.A172V|PRODH_ENST00000420436.1_Missense_Mutation_p.A172V NM_016335.4 NP_057419.4 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 280 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) CTGCAGCACCGCCACCTCCAG 0.657000 5 315 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200618 101200618 + Silent SNP C C T rs143814604 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:101200618C>T ENST00000341267.4 + 5 779 c.537C>T c.(535-537)tgC>tgT p.C179C DLK1_ENST00000331224.6_Silent_p.C179C NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 179 EGF-like 5. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CCAACCCATGCGAGAACGACG 0.657000 48 336 0 0 1 0 0 NHLH1 4807 broad.mit.edu 37 1 160340909 160340909 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:160340909G>A ENST00000302101.5 + 2 834 c.388G>A c.(388-390)Gtg>Atg p.V130M NM_005598.3 NP_005589.1 Q02575 HEN1_HUMAN nescient helix loop helix 1 130 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTGAACCACGTGCTGGACGT 0.622000 48 277 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 12 57 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432919 67432919 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:67432919G>A ENST00000349015.3 - 7 981 c.543C>T c.(541-543)ccC>ccT p.P181P ALDH3B2_ENST00000530069.1_Silent_p.P181P NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 181 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCTGCAGGGCGGGCAGCAGCC 0.642000 6 707 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52845384 52845384 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:52845384C>T ENST00000252252.3 - 1 526 c.479G>A c.(478-480)cGg>cAg p.R160Q NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 160 Head. VR -> IG (in Ref. 2; AAA59466). ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CTCCTCGGCCCGCACCCGCTG 0.597000 19 509 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C C G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:7577090C>G ENST00000420246.2 - 8 980 c.848G>C c.(847-849)cGc>cCc p.R283P TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 283 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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) TTCCTCTGTGCGCCGGTCTCT 0.562000 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) 29 131 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 5 228 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 5 240 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 5 450 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917857 2917857 + Missense_Mutation SNP C C T rs148390269 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:2917857C>T ENST00000306908.5 + 4 1386 c.1238C>T c.(1237-1239)aCg>aTg p.T413M ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CATTTGAGGACGCACACTGGA 0.438000 6 438 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486817 125486817 + Missense_Mutation SNP G G T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:125486817G>T ENST00000259466.1 + 1 549 c.549G>T c.(547-549)caG>caT p.Q183H NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 GTGACACCCAGCCTGTGCTAA 0.512000 7 839 3.86212e-05 3.96052e-05 1 1 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 9 1310 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557727 214557727 + Missense_Mutation SNP G G A rs138557012 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:214557727G>A ENST00000366956.5 - 13 1665 c.1471C>T c.(1471-1473)Cgg>Tgg p.R491W PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 491 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGCCTCTCCCGCATCTCCGGT 0.527000 7 804 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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) 34 272 1.22674e-20 1.3345e-20 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103442 53103442 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:53103442C>T ENST00000408890.4 + 1 94 c.78C>T c.(76-78)ccC>ccT p.P26P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 26 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGCAAGGCCCCGACGCCCTGG 0.706000 19 116 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44879977 44879977 + Splice_Site SNP T T A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chrX:44879977T>A ENST00000377967.4 + 6 605 c.e6+2 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGTTTAAAGGTAGGTTGTTGG 0.318000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 85 281 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|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 9 174 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462047 50462047 + Missense_Mutation SNP A A C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:50462047A>C ENST00000447370.2 - 7 1306 c.1216T>G c.(1216-1218)Tgg>Ggg p.W406G SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 406 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GTCTGTCCCCACCGGGTCCAG 0.682000 5 327 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908065 140908065 + Missense_Mutation SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:140908065G>C ENST00000253811.6 - 23 3246 c.3106C>G c.(3106-3108)Ctc>Gtc p.L1036V DIAPH1_ENST00000398557.4_Missense_Mutation_p.L1035V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V O60610 DIAP1_HUMAN diaphanous-related formin 1 1035 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAACTTGAGGACATCGGGA 0.502000 36 216 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872107 213872107 + Nonsense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:213872107G>A ENST00000457361.1 - 8 1726 c.1558C>T c.(1558-1560)Cga>Tga p.R520* IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375* NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGCTCCCCTCGAACAATGTGT 0.483000 35 269 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 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.Q2741Q(3)|p.Q2742Q(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) agcagcagcaacagcagcagc 0.602000 11 156 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15769925 15769925 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:15769925C>T ENST00000375943.2 + 3 201 c.178C>T c.(178-180)Ccc>Tcc p.P60S CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375949.4_Missense_Mutation_p.A123V Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 0 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AATGATATTGCCCTCATCAAG 0.592000 7 1215 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G G A rs558823 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:144825409G>A ENST00000440491.2 + 11 1361 c.1361G>A c.(1360-1362)gGt>gAt p.G454D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GACTCACTGGGTAGATGGTAT 0.493000 7 878 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124816902 124816902 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:124816902C>A ENST00000356219.3 - 44 7043 c.6888G>T c.(6886-6888)aaG>aaT p.K2296N NCOR2_ENST00000405201.1_Missense_Mutation_p.K2289N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2300 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGTTCAGCTTCTTGTTGATCT 0.607000 OREG0022237 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 359 3.59834e-05 3.71367e-05 1 1 0 SLC6A1 6529 broad.mit.edu 37 3 11064024 11064024 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:11064024G>A ENST00000287766.4 + 7 1005 c.584G>A c.(583-585)cGc>cAc p.R195H SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 195 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TTGACCAGGCGCAACATGCAT 0.597000 4 118 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825416 144825416 + Missense_Mutation SNP G G T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:144825416G>T ENST00000440491.2 + 11 1368 c.1368G>T c.(1366-1368)tgG>tgT p.W456C NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGGTAGATGGTATTCGACTC 0.498000 7 939 0.0215528 0.0218239 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329453 88329453 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:88329453C>T ENST00000325089.6 + 2 2029 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 604 LRRCT 2. integral to membrane p.R604C(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACCGACATGCGCTCCATTAA 0.567000 7 875 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 126 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292832 102292832 + RNA SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:102292832G>C ENST00000561463.1 + 0 878 GAAGACACTCGTGGAGGCGTC 0.597000 5 92 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122821122 122821122 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:122821122C>T ENST00000194130.2 - 2 172 c.133G>A c.(133-135)Gcc>Acc p.A45T SLC13A1_ENST00000539873.1_5'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 45 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CAAAATGTGGCGACCACAAAG 0.428000 4 196 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40395919 40395919 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:40395919G>A ENST00000221347.6 - 15 7485 c.7478C>T c.(7477-7479)gCc>gTc p.A2493V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2493 VWFD 6. extracellular region protein binding p.A2493V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAGGACGGCAAACCGATG 0.627000 8 1212 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43870629 43870629 + Silent SNP C C T rs139800936 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:43870629C>T ENST00000417669.1 + 4 864 c.420C>T c.(418-420)taC>taT p.Y140Y MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000439548.1_5'UTR O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 140 hydrolase activity p.Y140*(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCTGCCCTACGAGTACAAGA 0.582000 6 561 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 294 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395053 139395053 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:139395053C>T ENST00000277541.6 - 31 5960 c.5885G>A c.(5884-5886)cGc>cAc p.R1962H NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1962 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGCGGGGTGCGGCCCATGTT 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 626 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290359 62290359 + Missense_Mutation SNP A A C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:62290359A>C ENST00000258991.3 - 2 1303 c.1219T>G c.(1219-1221)Ttg>Gtg p.L407V TEX2_ENST00000584379.1_Missense_Mutation_p.L407V|TEX2_ENST00000583097.1_Missense_Mutation_p.L407V Q8IWB9 TEX2_HUMAN testis expressed 2 407 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AAGGCAGACAAAGAACATTTC 0.448000 88 532 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50139001 50139001 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:50139001G>A ENST00000246792.3 - 5 664 c.562C>T c.(562-564)Cgg>Tgg p.R188W NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 188 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) CGGACAGCCCGCACCAGCTGC 0.597000 6 454 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 21 524 1.21669e-08 1.28031e-08 1 1 0 CCDC8 83987 broad.mit.edu 37 19 46914987 46914987 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:46914987C>T ENST00000307522.3 - 1 1854 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 361 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCAGCCTCTTCCCTCTGGTTA 0.597000 101 613 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150908624 150908624 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:150908624G>A ENST00000474524.1 + 13 1912 c.1874G>A c.(1873-1875)gGa>gAa p.G625E MED12L_ENST00000422248.2_Missense_Mutation_p.G625E|MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 625 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATATCTCGAGGAGATTTGTCA 0.488000 29 221 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 8 722 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 7 337 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6261751 6261751 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:6261751G>A ENST00000379936.2 + 4 842 c.727G>A c.(727-729)Gag>Aag p.E243K CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 243 response to stimulus|sensory perception of smell cAMP binding p.E243K(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGAAGAAGAGTACCTCTT 0.552000 54 342 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33623225 33623225 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:33623225G>A ENST00000361680.2 + 1 228 c.150G>A c.(148-150)ccG>ccA p.P50P WDR88_ENST00000355868.3_Silent_p.P50P|WDR88_ENST00000592765.1_Silent_p.P50P Q6ZMY6 WDR88_HUMAN WD repeat domain 88 50 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TGTCGATCCCGCACACGCACC 0.652000 5 505 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 597 --- --- --- --- KIF1B 23095 broad.mit.edu 37 1 10425476 10425477 + Frame_Shift_Ins INS - - C rs78662124 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:10425476_10425477insC ENST00000377086.1 + 43 4724_4725 c.4522_4523insC c.(4522-4524)ccgfs p.P1508fs KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.P1508fs|KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.P1462fs O60333 KIF1B_HUMAN kinesin family member 1B 1508 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGTGGAAAAAACCCGCCACTTT 0.505 8 242 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 9 109 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:112524444_112524445insG ENST00000369697.1 - 1 973_974 c.904_905insC c.(904-906)ccafs p.P302fs KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 302 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGGGAGTGGCGGGAAAACTTG 0.579 10 331 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 9 938 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115469133 115469134 + Frame_Shift_Ins INS - - A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:115469133_115469134insA ENST00000369522.3 + 23 2115_2116 c.1875_1876insA c.(1873-1878)ttaaaafs p.LK625fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 625 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAGGCCTTGAAAAAAAAAGG 0.267 7 172 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 9 42 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 9 996 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 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 9 1019 --- --- --- --- APOA1BP 128240 broad.mit.edu 37 1 156562376 156562376 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:156562376delA ENST00000368235.3 + 4 473 c.430delA c.(430-432)aafs p.K144fs APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 144 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATTACCCCAAAAGGCCTAA 0.567 7 1194 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 8 1220 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 777 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 10 355 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 7 478 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 10 418 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 7 319 --- --- --- --- FKBP7 51661 broad.mit.edu 37 2 179343217 179343217 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:179343217delT ENST00000424785.2 - 1 68 c.10delA c.(10-12)ccfs p.T4fs FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 4 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAATGCATGGTTTTTGGCATC 0.522 7 1010 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 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) GGTCTCCAGTGGGGGGGTGTC 0.617 10 1959 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 9 277 --- --- --- --- THRB 7068 broad.mit.edu 37 3 24206519 24206519 + Splice_Site DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:24206519delT ENST00000280696.5 - 1 567 c.328_splice c.e1+1 p.K109_splice THRB_ENST00000356447.4_Intron|THRB_ENST00000396671.2_Intron|THRB_ENST00000416420.1_Intron P10828 THB_HUMAN thyroid hormone receptor, beta 94 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTCCCTACCTTTTTTTTGAG 0.353 8 192 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 9 292 --- --- --- --- IL17RB 55540 broad.mit.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:53889347delA ENST00000288167.3 + 6 517 c.508delA c.(508-510)aafs p.K172fs NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 172 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) AATGAAATATAAAAAAAAGTG 0.383 7 751 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 188 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 8 380 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_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 8 235 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 11 326 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195395356 195395357 + RNA DEL TG TG - rs113879828 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:195395356_195395357delTG ENST00000445430.1 + 0 796 CGTGGGCCACTGTGTGCAGTCA 0.604 12 137 --- --- --- --- N4BP2 55728 broad.mit.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:40144449delA ENST00000261435.6 + 15 5358 c.4942delA c.(4942-4944)aafs p.K1649fs NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1649 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCGGATAGGGAAAAAAAATGT 0.398 7 352 --- --- --- --- C4orf26 152816 broad.mit.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:76489680delA ENST00000435974.2 + 3 486 c.468delA c.(466-468)gcfs p.A156fs C4orf26_ENST00000311623.4_3'UTR NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATACTGAAGCAAAAAAAAGCC 0.363 8 357 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 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 15 275 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 7 20 --- --- --- --- QRFPR 84109 broad.mit.edu 37 4 122250740 122250740 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:122250740delT ENST00000394427.2 - 6 1436 c.1025delA c.(1024-1026)atfs p.N342fs QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 342 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 AGACAAAACATTTTTTTTGAA 0.333 7 381 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 12 929 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 7 304 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 7 661 --- --- --- --- MARVELD2 153562 broad.mit.edu 37 5 68737374 68737375 + Frame_Shift_Ins INS - - A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:68737374_68737375insA ENST00000325631.5 + 7 1644_1645 c.1570_1571insA c.(1570-1572)aaafs p.K524fs MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.K408fs NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 524 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) TACATTTCTGGAAAAAAAAGAA 0.322 7 284 --- --- --- --- GTF2H2B 0 broad.mit.edu 37 5 69730714 69730715 + RNA INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:69730714_69730715insT ENST00000513202.1 + 0 753 NR_033417.1 CTATGAAGGTGTTTTTTTTTCC 0.322 9 215 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 9 28 --- --- --- --- BMP6 654 broad.mit.edu 37 6 7727523 7727525 + In_Frame_Del DEL AGC AGC - rs7745236 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:7727523_7727525delAGC ENST00000283147.6 + 1 494_496 c.335_337delAGC c.(334-339)gag>g p.EQ112del NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 112 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118delQ(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcaggaggagcagcagcagca 0.709 8 89 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 450 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 9 325 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 15 915 --- --- --- --- WISP3 8838 broad.mit.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:112389434delA ENST00000361714.1 + 4 715 c.670delA c.(670-672)aafs p.K226fs WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 208 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) ACTTATTTGGAAAAAAAAATG 0.333 7 221 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755219 146755221 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:146755219_146755221delGAG ENST00000361719.2 + 9 3342_3344 c.2872_2874delGAG c.(2872-2874)del p.E961del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 961 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) TTACAACGTAGAGGAGGAGGAGG 0.586 7 851 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del 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 12 724 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 9 576 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 9 425 --- --- --- --- MAGI2 9863 broad.mit.edu 37 7 79082533 79082533 + Frame_Shift_Del DEL C C - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:79082533delC ENST00000354212.4 - 1 357 c.104delG c.(103-105)gcfs p.G35fs MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000446159.1_RNA NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 35 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATTCTCGGCGCCCCCCTTCAG 0.577 7 758 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 11 368 --- --- --- --- GPC2 221914 broad.mit.edu 37 7 99771554 99771554 + Frame_Shift_Del DEL C C - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:99771554delC ENST00000292377.2 - 5 963 c.796delG c.(796-798)tcfs p.V266fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 266 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTGAGGGGACCCCCCGGCAC 0.642 9 965 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 9 347 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 824 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 8 1127 --- --- --- --- PSIP1 11168 broad.mit.edu 37 9 15465556 15465557 + Frame_Shift_Del DEL TC TC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:15465556_15465557delTC ENST00000380733.4 - 16 1897_1898 c.1554_1555delGA c.(1552-1557)gactfs p.ET518fs PSIP1_ENST00000380738.4_Frame_Shift_Del_p.ET518fs O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 518 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) GATATTTCAGTCTCTCTCTCTT 0.366 7 388 --- --- --- --- RP11-180I4.2 0 broad.mit.edu 37 9 98468147 98468148 + RNA INS - - CAC rs117111638 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:98468147_98468148insCAC ENST00000580326.1 + 0 189 acaatcaccatcaccaccacca 0.574 5 8 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 10 160 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141070119 141070120 + RNA INS - - GG TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:141070119_141070120insGG ENST00000503395.1 + 0 1199_1200 p.S78S(1) TCTGTGCGCTCGGGGCCCTTCG 0.678 8 401 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 11 360 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 7 451 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 13 614 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 12 569 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 12 478 --- --- --- --- C11orf57 55216 broad.mit.edu 37 11 111953288 111953289 + Frame_Shift_Ins INS - - A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:111953288_111953289insA ENST00000532163.1 + 6 1153_1154 c.387_388insA c.(385-390)caaaaafs p.QK129fs C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.QK158fs|C11orf57_ENST00000280352.9_Frame_Shift_Ins_p.QK157fs Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 157 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) AGAAATCCCACAAAAAAAAGCA 0.396 7 264 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427645 118427647 + In_Frame_Del DEL TCA TCA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:118427645_118427647delTCA ENST00000264020.2 - 5 689_691 c.312_314delTGA c.(310-315)gaa>ga p.DE104del IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del 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 10 1027 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 8 892 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000357008.2_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 1153 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 14 909 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 507 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 533 --- --- --- --- CCDC63 160762 broad.mit.edu 37 12 111311658 111311659 + Frame_Shift_Ins INS - - A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:111311658_111311659insA ENST00000308208.5 + 5 624_625 c.382_383insA c.(382-384)aaafs p.K128fs CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.K49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.K88fs NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 128 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCTTCAGATGGAAAAAAAAATC 0.416 9 367 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 16 1479 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 16 441 --- --- --- --- RP11-29G8.3 0 broad.mit.edu 37 13 76123902 76123916 + RNA DEL GGCGGCGGCGGCGAA GGCGGCGGCGGCGAA - rs8192737 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:76123902_76123916delGGCGGCGGCGGCGAA ENST00000563635.1 + 0 0_8 GggcggaagcggcggcggcggcgaaggcggcggcT 0.716 OREG0022446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 44 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 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 16 256 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:36194270delT ENST00000258840.6 - 14 2216 c.1826delA c.(1825-1827)atfs p.N609fs RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 609 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGGTCATATTTTTTTTCCC 0.378 8 551 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 11 134 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 8 367 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:93761193delT ENST00000334746.5 - 3 480 c.173delA c.(172-174)agfs p.K58fs BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGAGGTTCTCTTTTTTTTGTC 0.438 9 874 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 9 1098 --- --- --- --- IGHV4-61 0 broad.mit.edu 37 14 107095573 107095573 + RNA DEL G G - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:107095573delG ENST00000390630.2 - 0 89 TTCTTGCACAGGAGGTCCAGG 0.507 7 154 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 414 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 12 179 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 12 382 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 8 290 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-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) TTCTTGTCATCTTTTTTTTCAG 0.465 12 833 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 7 705 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. 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) CATCACCCCTAGCAGCAGCAGCA 0.537 7 1108 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27957908 27957908 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:27957908delT ENST00000269033.3 - 15 4374 c.4223delA c.(4222-4224)agfs p.K1408fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1435fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1408 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCATTTGCCTTTTTCAGTCT 0.507 7 1108 --- --- --- --- SERPINB10 5273 broad.mit.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr18:61584739delA ENST00000238508.3 + 3 277 c.218delA c.(217-219)gafs p.E73fs NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 p.R76fs*7(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCTGAAAGTGAAAAAAAAAGG 0.284 8 139 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 8 244 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 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 9 759 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 8 1145 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 9 437 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 14 592 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-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 CATCATTtgttgctgctgctgct 0.576 7 401 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 10 339 --- --- --- --- RBBP8NL 140893 broad.mit.edu 37 20 60990678 60990678 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:60990678delT ENST00000252998.1 - 8 739 c.583delA c.(583-585)tcfs p.I195fs NM_080833.2 NP_543023.2 RBBP8 N-terminal like CCTGGGGAGATTTTGGCCACT 0.677 9 533 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 7 726 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 7 177 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. 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 CTGCTGGACTTGCTGCTGCTGCT 0.571 8 325 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 10 270 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 7 813 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140996449 140996449 + Frame_Shift_Del DEL T T - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chrX:140996449delT ENST00000285879.4 + 4 3545 c.3259delT c.(3259-3261)ttfs p.F1087fs MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1087 MAGE. 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) AGTAGTAGAGTTTTTGGCCAT 0.468 HNSCC(15;0.026) 8 634 --- --- --- ---