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 COL24A1 255631 broad.mit.edu 37 1 86488275 86488275 + Splice_Site SNP C C A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr1:86488275C>A ENST00000370571.2 - 17 2515 c.e17-1 COL24A1_ENST00000436319.1_Splice_Site NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CTTGTTCACCCTGGAAAGCAC 0.328 3 42 --- --- --- --- NBPF14 25832 broad.mit.edu 37 1 148004650 148004650 + Silent SNP T T C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr1:148004650T>C ENST00000369219.1 - 22 2680 c.2664A>G c.(2662-2664)gaA>gaG p.E888E Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 888 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TGATATGCTCTTCCTCAAATG 0.433 89 334 --- --- --- --- FCER1A 2205 broad.mit.edu 37 1 159275921 159275921 + Missense_Mutation SNP C C A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr1:159275921C>A ENST00000368115.1 + 5 574 c.475C>A c.(475-477)Cac>Aac p.H159N FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 159 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GTATGAGAACCACAACATCTC 0.488 22 74 --- --- --- --- SEC16B 89866 broad.mit.edu 37 1 177930014 177930014 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr1:177930014C>T ENST00000308284.6 - 7 937 c.848G>A c.(847-849)aGt>aAt p.S283N RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 283 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGGCCCGAAACTCACAGGAAC 0.532 5 40 --- --- --- --- URB2 9816 broad.mit.edu 37 1 229771856 229771856 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr1:229771856C>T ENST00000258243.2 + 4 1632 c.1496C>T c.(1495-1497)tCt>tTt p.S499F NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 499 nucleolus p.S499F(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ACGGTACTCTCTGCATGCCTC 0.577 41 117 --- --- --- --- PSD4 23550 broad.mit.edu 37 2 113949974 113949974 + Missense_Mutation SNP C C T rs146593284 TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr2:113949974C>T ENST00000441564.3 + 6 1731 c.1562C>T c.(1561-1563)cCg>cTg p.P521L PSD4_ENST00000245796.6_Missense_Mutation_p.P549L Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGAGGACACCGATGAACTCT 0.557 25 211 --- --- --- --- ATF2 1386 broad.mit.edu 37 2 176001149 176001149 + Missense_Mutation SNP T T A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr2:176001149T>A ENST00000264110.2 - 3 321 c.23A>T c.(22-24)aAt>aTt p.N8I ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 8 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CCTGGCAGAATTCACATGTAA 0.284 11 144 --- --- --- --- BMPR2 659 broad.mit.edu 37 2 203383680 203383680 + Missense_Mutation SNP G G C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr2:203383680G>C ENST00000374580.4 + 6 1296 c.757G>C c.(757-759)Gaa>Caa p.E253Q BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 253 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GCCTTTGATGGAACATGACAA 0.423 39 109 --- --- --- --- PDCL2 132954 broad.mit.edu 37 4 56447021 56447021 + Missense_Mutation SNP T T C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr4:56447021T>C ENST00000295645.4 - 3 287 c.185A>G c.(184-186)gAt>gGt p.D62G NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 62 D -> N (in Ref. 3; AAH34431). endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) ATCTTCTTCATCAAATTCATC 0.269 3 9 --- --- --- --- PDLIM5 10611 broad.mit.edu 37 4 95376473 95376473 + Missense_Mutation SNP G G A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr4:95376473G>A ENST00000317968.4 + 2 170 c.34G>A c.(34-36)Gct>Act p.A12T PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 12 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GGTTGGCCCAGCTCCTTGGGG 0.403 4 35 --- --- --- --- PCDHA8 56140 broad.mit.edu 37 5 140222810 140222810 + Missense_Mutation SNP G G A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr5:140222810G>A ENST00000531613.1 + 1 1904 c.1904G>A c.(1903-1905)cGt>cAt p.R635H PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACCACTCGTGTCCTGGAC 0.647 13 76 --- --- --- --- LARS 51520 broad.mit.edu 37 5 145493811 145493811 + Missense_Mutation SNP A A C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr5:145493811A>C ENST00000394434.2 - 32 3555 c.3389T>G c.(3388-3390)gTc>gGc p.V1130G LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1130 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTTTCCCAGGACAGGAACTCG 0.408 27 71 --- --- --- --- PTCHD4 442213 broad.mit.edu 37 6 47846330 47846330 + Silent SNP G G A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr6:47846330G>A ENST00000339488.4 - 3 2283 c.2250C>T c.(2248-2250)agC>agT p.S750S NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 750 integral to membrane hedgehog receptor activity CTTGCAAGGAGCTTTTTATAC 0.433 9 23 --- --- --- --- FAM120B 84498 broad.mit.edu 37 6 170627925 170627925 + Nonsense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr6:170627925C>T ENST00000476287.1 + 2 1555 c.1447C>T c.(1447-1449)Caa>Taa p.Q483* FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495* NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 483 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TGAATCCAGGCAAGAAGTTTT 0.453 9 200 --- --- --- --- PDP1 54704 broad.mit.edu 37 8 94935560 94935560 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr8:94935560C>T ENST00000396200.3 + 3 1624 c.1348C>T c.(1348-1350)Cat>Tat p.H450Y PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 425 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GGAGACTATGCATAGGCAGGA 0.498 7 120 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100866333 100866333 + Silent SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr8:100866333C>T ENST00000358544.2 + 56 10902 c.10791C>T c.(10789-10791)gtC>gtT p.V3597V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3597 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATTTGCTCGTCAGCATCCACG 0.537 10 80 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64967187 64967187 + Silent SNP T T G TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr10:64967187T>G ENST00000399262.2 - 10 4460 c.4242A>C c.(4240-4242)tcA>tcC p.S1414S JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1414 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAATTACTTCTGAACCACCCC 0.408 17 148 --- --- --- --- VAX1 11023 broad.mit.edu 37 10 118897516 118897516 + Missense_Mutation SNP C C A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr10:118897516C>A ENST00000277905.2 - 1 296 c.52G>T c.(52-54)Gct>Tct p.A18S VAX1_ENST00000369206.5_Missense_Mutation_p.A18S NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 18 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) ACCCGGGCAGCCTCGGCGTCC 0.552 8 88 --- --- --- --- MS4A14 84689 broad.mit.edu 37 11 60164141 60164141 + Silent SNP T T C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr11:60164141T>C ENST00000300187.6 + 1 367 c.90T>C c.(88-90)ccT>ccC p.P30P MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 30 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CCTACAGACCTCATAGCTCTC 0.458 3 32 --- --- --- --- DDN 23109 broad.mit.edu 37 12 49391533 49391533 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr12:49391533C>T ENST00000421952.2 - 2 1147 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 376 Interaction with ACTN1. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 TGTTCTCCTTCTTTCCCTTCC 0.632 15 43 --- --- --- --- EPB42 2038 broad.mit.edu 37 15 43507486 43507486 + Missense_Mutation SNP G G T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr15:43507486G>T ENST00000300215.3 - 3 784 c.327C>A c.(325-327)ttC>ttA p.F109L EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 79 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGGAAATTGGGAATGTGGCTT 0.542 11 99 --- --- --- --- UBE2I 7329 broad.mit.edu 37 16 1370473 1370473 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr16:1370473C>T ENST00000355803.4 + 6 919 c.368C>T c.(367-369)cCa>cTa p.P123L UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 123 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CTAAATGAACCAAATATCCAA 0.532 6 93 --- --- --- --- PLEKHH3 79990 broad.mit.edu 37 17 40821536 40821536 + Missense_Mutation SNP T T A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr17:40821536T>A ENST00000293349.6 - 12 2538 c.2108A>T c.(2107-2109)tAt>tTt p.Y703F PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 706 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CACATGGCCATAGCTGACACT 0.667 4 38 --- --- --- --- METTL23 124512 broad.mit.edu 37 17 74729679 74729679 + Missense_Mutation SNP G G A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr17:74729679G>A ENST00000341249.6 + 5 816 c.484G>A c.(484-486)Gca>Aca p.A162T RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR NM_001206984.1 NP_001193913.1 Q86XA0 MET23_HUMAN methyltransferase like 23 162 integral to membrane methyltransferase activity large_intestine(2)|lung(1) 3 GTCTTTTGATGCAGACAAAGA 0.373 54 119 --- --- --- --- ZNF324 25799 broad.mit.edu 37 19 58982449 58982449 + Missense_Mutation SNP C C T TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr19:58982449C>T ENST00000536459.2 + 4 1299 c.590C>T c.(589-591)cCa>cTa p.P197L ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR O75467 Z324A_HUMAN zinc finger protein 324 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGGCAGAAACCATGTGCACAG 0.647 3 48 --- --- --- --- JPH2 57158 broad.mit.edu 37 20 42747223 42747223 + Missense_Mutation SNP C C A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr20:42747223C>A ENST00000372980.3 - 3 2082 c.1210G>T c.(1210-1212)Gcc>Tcc p.A404S NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 404 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCAGGGCGGCCTGTTCCGCT 0.607 9 169 --- --- --- --- MSN 4478 broad.mit.edu 37 X 64949442 64949442 + Missense_Mutation SNP A A C TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chrX:64949442A>C ENST00000360270.5 + 4 507 c.335A>C c.(334-336)aAt>aCt p.N112T NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 112 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GGCATTCTCAATGATGATATT 0.498 T ALK ALCL 17 14 --- --- --- --- TENM1 10178 broad.mit.edu 37 X 123839059 123839059 + Silent SNP G G A TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chrX:123839059G>A ENST00000422452.2 - 5 882 c.819C>T c.(817-819)ttC>ttT p.F273F TENM1_ENST00000371130.3_Silent_p.F273F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGGCTGCACTGAAGATCGCAG 0.493 45 25 --- --- --- --- CAPSL 133690 broad.mit.edu 37 5 35910128 35910128 + Frame_Shift_Del DEL T T - TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr5:35910128delT ENST00000397367.2 - 4 491 c.365delA c.(364-366)aagfs p.K122fs CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 122 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CTTGTCTAACTTTCTAAAAGC 0.388 33 68 --- --- --- --- FABP4 2167 broad.mit.edu 37 8 82391107 82391107 + Frame_Shift_Del DEL C C - TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr8:82391107delC ENST00000256104.4 - 4 487 c.392delG c.(391-393)agafs p.R131fs FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 131 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) GGCTTATGCTCTCTCATAAAC 0.383 18 59 --- --- --- --- ASPN 54829 broad.mit.edu 37 9 95228754 95228754 + Frame_Shift_Del DEL T T - TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr9:95228754delT ENST00000375544.3 - 4 730 c.487delA c.(487-489)agtfs p.S163fs CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs NM_017680.4 NP_060150 Q9BXN1 ASPN_HUMAN asporin 163 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 GGTATTTCACTTAGTTGATTG 0.373 22 110 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47692564 47692565 + Frame_Shift_Del DEL GT GT - TCGA-EJ-7314-01A-31D-2114-08 TCGA-EJ-7314-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5029ad2a-780b-4be9-920c-ee48da8e2f42 4aace255-a8e8-4e86-a431-b957c4f80e8d g.chr21:47692564_47692565delGT ENST00000397708.1 - 9 2629_2630 c.2375_2376delAC c.(2374-2376)gacfs p.D792fs MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 792 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGTTTCTCAGGTCCTGGTACAT 0.500 45 102 --- --- --- ---