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 ZNF710 374655 broad.mit.edu 37 15 90617455 90617455 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:90617455C>T ENST00000268154.4 + 4 2009 c.1758C>T c.(1756-1758)ctC>ctT p.L586L NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) AGTTTAATCTCAAGGGCAACC 0.592000 18 33 0 0 0.038395 0 0 ITGA3 3675 broad.mit.edu 37 17 48156836 48156836 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:48156836G>T ENST00000320031.8 + 21 2951 c.2621G>T c.(2620-2622)cGg>cTg p.R874L ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 874 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CAGCGCAGGCGGCGACAGCTG 0.627000 4 66 0.00909568 0.00952881 0.009096 1 0 MCM2 4171 broad.mit.edu 37 3 127335823 127335823 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:127335823C>T ENST00000265056.7 + 10 1879 c.1635C>T c.(1633-1635)ttC>ttT p.F545F NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 545 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GAGCCATCTTCACCACTGGCC 0.607000 46 75 0 0 0.014410 0 0 PCDHB10 0 broad.mit.edu 37 5 140573408 140573408 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:140573408C>T ENST00000239446.4 + 1 1467 c.1283C>T c.(1282-1284)aCa>aTa p.T428I NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 428 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTTGGGGACACCCAGGCTG 0.537000 33 46 0 0 0.013726 0 0 C9orf116 138162 broad.mit.edu 37 9 138391667 138391667 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:138391667C>T ENST00000371789.3 - 1 697 c.31G>A c.(31-33)Gag>Aag p.E11K C9orf116_ENST00000429260.2_Missense_Mutation_p.E11K|C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 11 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GCCACAGGCTCCGCGCACGCT 0.697000 4 5 0 0 0.014758 0 0 TRIM46 80128 broad.mit.edu 37 1 155149705 155149705 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:155149705G>A ENST00000392451.2 + 5 931 c.848G>A c.(847-849)gGa>gAa p.G283E TRIM46_ENST00000334634.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000468878.1_3'UTR Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 283 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACATCCTGGGAAACCAGGAC 0.612000 35 126 0 0 0.025465 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 3 88 0 0 0.004672 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 67 0 0 0.009096 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742735 49742735 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr12:49742735G>A ENST00000549441.2 + 3 1284 c.80G>A c.(79-81)aGg>aAg p.R27K DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 27 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TACCTGGGAAGGGACAGCCAC 0.652000 4 78 0 0 0.009096 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 30 0 0 0.004672 0 0 CT47B1 643311 broad.mit.edu 37 X 120008779 120008779 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:120008779G>A ENST00000371311.3 - 1 1000 c.746C>T c.(745-747)cCg>cTg p.P249L NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 249 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CTCTGAGGTCGGTTCCTCTGC 0.692000 55 100 0 0 0.014410 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 37 0 0 0.004672 0 0 INTU 27152 broad.mit.edu 37 4 128554328 128554328 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:128554328G>A ENST00000335251.5 + 1 242 c.139G>A c.(139-141)Gat>Aat p.D47N INTU_ENST00000296461.5_Missense_Mutation_p.D47N NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 47 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AGCGAGTAGCGATTATGAGTA 0.488000 5 65 0 0 0.021553 0 0 BCAR3 8412 broad.mit.edu 37 1 94054850 94054850 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:94054850C>T ENST00000370244.1 - 7 901 c.613G>A c.(613-615)Gtt>Att p.V205I BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 205 SH2. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) AGTCGCAGAACTGTCCGGTTG 0.582000 4 22 0 0 0.014758 0 0 ZNF91 7644 broad.mit.edu 37 19 23544777 23544777 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr19:23544777G>A ENST00000300619.7 - 4 1209 c.1004C>T c.(1003-1005)tCa>tTa p.S335L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 335 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGCAAGGGTTGAAGAACGGCT 0.383000 20 75 0 0 0.043863 0 0 PCGF2 7703 broad.mit.edu 37 17 36896591 36896591 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:36896591C>T ENST00000580830.1 - 4 766 c.65G>A c.(64-66)gGg>gAg p.G22E PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E P35227 PCGF2_HUMAN polycomb group ring finger 2 22 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) GAAGTACCCCCCGCAGAGGGC 0.622000 11 57 0 0 0.020292 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156747 26156747 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:26156747C>T ENST00000304218.3 + 1 189 c.129C>T c.(127-129)ctC>ctT p.L43L NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 43 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 TGTCCGAGCTCATTACTAAAG 0.627000 13 38 0 0 0.013537 0 0 C15orf52 388115 broad.mit.edu 37 15 40630052 40630052 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:40630052C>T ENST00000397536.2 - 2 93 c.58G>A c.(58-60)Gag>Aag p.E20K C15orf52_ENST00000559313.1_Missense_Mutation_p.E230K Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 230 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CAGCCCGCCTCCGGGGGCTCC 0.697000 3 13 0 0 0.009096 0 0 USP38 84640 broad.mit.edu 37 4 144109022 144109022 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:144109022G>A ENST00000307017.4 + 2 1232 c.726G>A c.(724-726)caG>caA p.Q242Q USP38_ENST00000510377.1_Silent_p.Q242Q NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 242 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GCCTTGTGCAGCATATTCCTC 0.388000 3 49 0 0 0.004672 0 0 SESN3 143686 broad.mit.edu 37 11 94963999 94963999 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr11:94963999G>A ENST00000536441.1 - 1 362 c.26C>T c.(25-27)tCg>tTg p.S9L SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 9 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) GGCGGCGGCCGACGGGCTGCC 0.751000 5 9 0 0 0.014758 0 0 TREM1 54210 broad.mit.edu 37 6 41254385 41254385 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:41254385C>T ENST00000591620.1 - 1 35 c.9G>A c.(7-9)aaG>aaA p.K3K TREM1_ENST00000334475.6_Silent_p.K3K|TREM1_ENST00000244709.4_Silent_p.K3K|TREM1_ENST00000589614.1_Silent_p.K3K NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 3 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) AGAGCCTGGTCTTCCTCATCC 0.582000 12 52 0 0 0.020292 0 0 NAPG 8774 broad.mit.edu 37 18 10526109 10526109 + Nonsense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr18:10526109C>T ENST00000322897.6 + 1 79 c.10C>T c.(10-12)Cag>Tag p.Q4* NAPG_ENST00000542979.1_5'UTR NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 4 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 GATGGCGGCTCAGAAGATAAA 0.597000 3 28 0 0 0.004672 0 0 ID2 3398 broad.mit.edu 37 2 8822537 8822537 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr2:8822537C>T ENST00000234091.4 + 3 1102 c.242C>T c.(241-243)tCg>tTg p.S81L ID2_ENST00000396290.1_Missense_Mutation_p.S81L|ID2_ENST00000331129.3_Missense_Mutation_p.S81L Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 81 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCCTGGACTCGCATCCCACT 0.587000 16 41 0 0 0.043863 0 0 CTNND2 1501 broad.mit.edu 37 5 10973762 10973762 + Missense_Mutation SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:10973762G>C ENST00000304623.8 - 22 3670 c.3481C>G c.(3481-3483)Cag>Gag p.Q1161E CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1161 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTGGAATTCTGAAATGGCTGG 0.532000 19 47 0 0 0.043863 0 0 VTI1A 143187 broad.mit.edu 37 10 114298090 114298090 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr10:114298090G>A ENST00000393077.2 + 5 543 c.e5+1 VTI1A_ENST00000432306.1_Splice_Site NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) GTGGAAACCGGTAAGAATTCT 0.453000 T TCF7L2 colorectal 19 61 0 0 0.038395 0 0 DCX 1641 broad.mit.edu 37 X 110653602 110653602 + Missense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:110653602C>A ENST00000338081.3 - 2 439 c.268G>T c.(268-270)Gac>Tac p.D90Y DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y|DCX_ENST00000371993.2_Missense_Mutation_p.D9Y NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 90 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TCTCTTTCGTCAAAGTGTCCA 0.507000 27 112 1.16021e-09 1.32595e-09 0.034045 1 0 SLC16A13 201232 broad.mit.edu 37 17 6939881 6939881 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:6939881C>T ENST00000308027.6 + 1 488 c.180C>T c.(178-180)atC>atT p.I60I NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 60 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 CCATAGGAATCGCGGTGCAGC 0.637000 5 42 0 0 0.014758 0 0 SNX29 92017 broad.mit.edu 37 16 12121194 12121194 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:12121194C>T ENST00000566228.1 + 4 209 c.140C>T c.(139-141)gCc>gTc p.A47V NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGTCTGTGTGCCCAGTTTGAA 0.572000 27 57 0 0 0.027356 0 0 IRF1 3659 broad.mit.edu 37 5 131822017 131822017 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:131822017G>A ENST00000245414.4 - 7 851 c.593C>T c.(592-594)cCa>cTa p.P198L IRF1_ENST00000405885.2_Missense_Mutation_p.P198L NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 198 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) AACTTCCACTGGGATGTGCCA 0.582000 4 88 0 0 0.009096 0 0 PLXND1 23129 broad.mit.edu 37 3 129324718 129324718 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:129324718G>A ENST00000393239.1 - 1 943 c.765C>T c.(763-765)ttC>ttT p.F255F PLXND1_ENST00000324093.4_Silent_p.F255F Q9Y4D7 PLXD1_HUMAN plexin D1 255 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGTTGAGGTCGAAGGTGAAGA 0.657000 3 15 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) 9 26 0 0 0.004482 0 0 RUFY3 22902 broad.mit.edu 37 4 71634264 71634264 + Nonsense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:71634264C>A ENST00000226328.4 + 5 1145 c.582C>A c.(580-582)taC>taA p.Y194* RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194* NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 194 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) GTGAATTCTACGAACCCAATG 0.388000 4 104 1.024e-07 1.14066e-07 0.014758 1 0 RPL9 6133 broad.mit.edu 37 4 39460022 39460022 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:39460022G>A ENST00000449470.2 - 1 486 c.38C>T c.(37-39)cCa>cTa p.P13L RPL9_ENST00000295955.9_Missense_Mutation_p.P13L NM_001024921.2 NP_001020092.1 P32969 RL9_HUMAN ribosomal protein L9 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1) 8 ACCATTTTCTGGAATGTCGAC 0.468000 11 45 0 0 0.008291 0 0 SPSB3 90864 broad.mit.edu 37 16 1828539 1828539 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:1828539G>A ENST00000566339.1 - 3 531 c.201C>T c.(199-201)ggC>ggT p.G67G SPSB3_ENST00000301717.4_Silent_p.G67G NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 67 intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 AGAAGGACTCGCCGGTCACGG 0.677000 16 58 0 0 0.012319 0 0 TRIM10 10107 broad.mit.edu 37 6 30121959 30121959 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:30121959G>A ENST00000449742.2 - 7 1308 c.1233C>T c.(1231-1233)ttC>ttT p.F411F TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 411 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 GAGCCGAGACGAAGCCCCAAG 0.672000 11 23 0 0 0.016723 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E 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 4 102 0 0 0.009096 0 0 FGD2 221472 broad.mit.edu 37 6 36983609 36983609 + Missense_Mutation SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:36983609G>C ENST00000274963.8 + 9 1266 c.1095G>C c.(1093-1095)agG>agC p.R365S NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 365 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TCCAGGTGAGGACCCGCATCG 0.612000 2 6 0 0 0.004672 0 0 IST1 9798 broad.mit.edu 37 16 71954709 71954709 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:71954709G>A ENST00000378799.6 + 5 781 c.425G>A c.(424-426)gGa>gAa p.G142E IST1_ENST00000329908.8_Missense_Mutation_p.G142E|IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.G155E|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA NM_001270975.1 NP_001257904.1 P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 142 Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding AACCAGATTGGAACTGTGAAT 0.413000 3 83 0 0 0.004672 0 0 AP005901.1 0 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 2 5 0 0 0.004672 0 0 KTI12 112970 broad.mit.edu 37 1 52499429 52499429 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:52499429G>A ENST00000371614.1 - 1 59 c.5C>T c.(4-6)cCg>cTg p.P2L TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 2 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 CACCACGAGCGGCATCCTCTC 0.657000 4 11 0 0 0.014758 0 0 ASPM 259266 broad.mit.edu 37 1 197115496 197115496 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:197115496C>T ENST00000367409.4 - 1 328 c.72G>A c.(70-72)ctG>ctA p.L24L ASPM_ENST00000294732.7_Silent_p.L24L NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 24 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 cggggccccgcagccccgcgg 0.701000 6 21 0 0 0.029380 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99213324 99213324 + Silent SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr10:99213324G>C ENST00000393760.1 + 7 943 c.594G>C c.(592-594)cgG>cgC p.R198R ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000370854.3_Silent_p.R198R NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 198 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) ATAACCATCGGTACTTCTTCT 0.483000 5 168 0 0 0.014758 0 0 IFNL1 282618 broad.mit.edu 37 19 39787080 39787080 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr19:39787080G>A ENST00000333625.2 + 1 116 c.19G>A c.(19-21)Gtg>Atg p.V7M NM_172140.1 NP_742152.1 interferon, lambda 1 AGCTTGGACCGTGGTGCTGGT 0.567000 19 60 0 0 0.012319 0 0 FREM1 158326 broad.mit.edu 37 9 14824915 14824915 + Missense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:14824915C>A ENST00000380881.4 - 12 2775 c.1960G>T c.(1960-1962)Gtc>Ttc p.V654F FREM1_ENST00000422223.2_Missense_Mutation_p.V653F|FREM1_ENST00000380880.3_Missense_Mutation_p.V653F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 653 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTTTCCTTGACAACCAAATGC 0.418000 8 35 7.48243e-07 8.23067e-07 0.006214 1 0 PPP6C 5537 broad.mit.edu 37 9 127915858 127915858 + Missense_Mutation SNP C C G TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:127915858C>G ENST00000451402.1 - 7 954 c.734G>C c.(733-735)aGt>aCt p.S245T PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T|PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000373547.4_Missense_Mutation_p.S208T NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 208 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TCCTCGGGGACTGATAGCCCA 0.438000 14 10 0 0 0.016723 0 0 CASZ1 54897 broad.mit.edu 37 1 10720553 10720553 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:10720553C>T ENST00000377022.3 - 6 863 c.546G>A c.(544-546)atG>atA p.M182I CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGAACTCGGTCATGGTGGAGG 0.652000 5 21 0 0 0.029380 0 0 C11orf53 341032 broad.mit.edu 37 11 111154827 111154827 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr11:111154827G>A ENST00000280325.4 + 3 181 c.34G>A c.(34-36)Ggt>Agt p.G12S NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 12 p.G12C(1) endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) AGGTTACTACGGTGTCAGAAG 0.502000 OREG0021325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 178 0 0 0.029380 0 0 RYR3 6263 broad.mit.edu 37 15 33833092 33833092 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:33833092G>A ENST00000389232.4 + 7 716 c.e7+1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCGAAGAAGGTGTGCTTCTT 0.428000 6 62 0 0 0.021553 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 28 0 0 0.004672 0 0 CASP3 836 broad.mit.edu 37 4 185550615 185550615 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:185550615G>A ENST00000393585.2 - 7 858 c.524C>T c.(523-525)tCa>tTa p.S175L CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000308394.4_Silent_p.F215F P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 0 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) GCGACTGGATGAACCAGGAGC 0.393000 15 42 0 0 0.038395 0 0 STK31 56164 broad.mit.edu 37 7 23749845 23749845 + Translation_Start_Site SNP A A T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr7:23749845A>T ENST00000355870.3 + 0 60 NM_031414.4 NP_113602.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTTGCGGTCGAAGCTCACGCG 0.662000 11 21 0 0 0.013537 0 0 SQLE 6713 broad.mit.edu 37 8 126033114 126033114 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr8:126033114G>A ENST00000265896.5 + 10 2430 c.e10+1 SQLE_ENST00000523430.1_Splice_Site NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGCTTTCTGTGTAAGTTGTGA 0.383000 6 17 0 0 0.021553 0 0 NMBR 4829 broad.mit.edu 37 6 142409595 142409595 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:142409595G>A ENST00000258042.1 - 1 341 c.201C>T c.(199-201)atC>atT p.I67I RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TGGTGATGAAGATCTTCACCA 0.602000 15 24 0 0 0.024245 0 0 SNORD3B-2 0 broad.mit.edu 37 17 18967379 18967379 + RNA SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:18967379C>T ENST00000364880.1 - 0 70 tcggggttttcggtgctctac 0.498000 9 32 0 0 0.006214 0 0 CCDC80 151887 broad.mit.edu 37 3 112357200 112357200 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:112357200G>T ENST00000206423.3 - 2 2506 c.1553C>A c.(1552-1554)tCt>tAt p.S518Y CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 518 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTCCAGCTGAGAGGCAGTAGG 0.473000 24 53 1.96895e-08 2.22138e-08 0.016522 1 0 RPL9 6133 broad.mit.edu 37 4 39460023 39460023 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:39460023G>A ENST00000449470.2 - 1 485 c.37C>T c.(37-39)Cca>Tca p.P13S RPL9_ENST00000295955.9_Missense_Mutation_p.P13S NM_001024921.2 NP_001020092.1 P32969 RL9_HUMAN ribosomal protein L9 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1) 8 CCATTTTCTGGAATGTCGACA 0.473000 11 44 0 0 0.008291 0 0 MYO10 4651 broad.mit.edu 37 5 16689986 16689986 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:16689986G>A ENST00000513610.1 - 28 4297 c.3843C>T c.(3841-3843)atC>atT p.I1281I MYO10_ENST00000515803.1_Silent_p.I620I|MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000505695.1_Silent_p.I620I|MYO10_ENST00000427430.2_Silent_p.I638I NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1281 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGGCCATAATGATGTCGATCC 0.468000 3 49 0 0 0.009096 0 0 GABRA3 2556 broad.mit.edu 37 X 151336929 151336929 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:151336929G>T ENST00000370314.4 - 10 1488 c.1250C>A c.(1249-1251)tCc>tAc p.S417Y RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417Y|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 417 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCGCCCTTGGAGATGGTGGA 0.557000 7 248 0.00198382 0.00210333 0.029380 1 0 PCGF2 7703 broad.mit.edu 37 17 36896590 36896590 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:36896590C>T ENST00000580830.1 - 4 767 c.66G>A c.(64-66)ggG>ggA p.G22G PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Silent_p.G22G|PCGF2_ENST00000585100.1_Silent_p.G22G|PCGF2_ENST00000360797.2_Silent_p.G22G|PCGF2_ENST00000581345.1_Silent_p.G22G P35227 PCGF2_HUMAN polycomb group ring finger 2 22 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TGAAGTACCCCCCGCAGAGGG 0.627000 10 57 0 0 0.016723 0 0 SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 7 229 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975832 31975833 + RNA INS - - C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:31975832_31975833insC ENST00000342991.6 + 0 1653 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGGGCCGGGGGCCTGCCATGAA 0.658 4 9 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 3 5 --- --- --- --- DPY19L4 286148 broad.mit.edu 37 8 95738654 95738657 + Frame_Shift_Del DEL GAAA GAAA - TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr8:95738654_95738657delGAAA ENST00000414645.2 + 2 211_214 c.112_115delGAAA c.(112-117)gafs p.ER38fs NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 38 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TCCAATTCCTGAAAGAGCTCCAAA 0.328 8 29 --- --- --- --- ANKRD49 54851 broad.mit.edu 37 11 94230120 94230120 + Frame_Shift_Del DEL A A - TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr11:94230120delA ENST00000544253.1 + 2 379 c.261delA c.(259-261)gtfs p.V87fs ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs Q8WVL7 ANR49_HUMAN ankyrin repeat domain 49 87 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAAATCGGGTAAAAAAAAAAA 0.393 9 145 --- --- --- --- CEP170B 283638 broad.mit.edu 37 14 105352853 105352854 + Frame_Shift_Ins INS - - G TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr14:105352853_105352854insG ENST00000453495.1 + 12 2508_2509 c.2280_2281insG c.(2278-2283)ccagccfs p.A761fs CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.A690fs|CEP170B_ENST00000414716.3_Frame_Shift_Ins_p.A760fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.A690fs centrosomal protein 170B GCCGAGGCCCCGAGCCAGGGGT 0.723 2 4 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 3 4 --- --- --- ---