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 LRRIQ3 127255 broad.mit.edu 37 1 74649266 74649266 + Missense_Mutation SNP A A C TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr1:74649266A>C ENST00000354431.4 - 2 294 c.103T>G c.(103-105)Ttc>Gtc p.F35V LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 35 F -> C (in dbSNP:rs2274904). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 aggccattgaacttcacaaaa 0.338 5 12 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228433234 228433234 + Missense_Mutation SNP A A G TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr1:228433234A>G ENST00000570156.2 + 13 3952 c.3878A>G c.(3877-3879)aAg>aGg p.K1293R OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 273 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACGTGGTACAAGGACGGGAAG 0.597 36 99 --- --- --- --- IGKV1D-43 28891 broad.mit.edu 37 2 90248930 90248930 + RNA SNP G G C TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr2:90248930G>C ENST00000468879.1 + 0 192 ATGGACATGAGGGTGCCCGCT 0.567 25 158 --- --- --- --- DRD3 1814 broad.mit.edu 37 3 113850057 113850057 + Missense_Mutation SNP C C G TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr3:113850057C>G ENST00000383673.2 - 6 1344 c.914G>C c.(913-915)aGa>aCa p.R305T DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.R305T NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 305 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGTCGATAATCTGCCATTGCT 0.517 18 169 --- --- --- --- PPAP2A 8611 broad.mit.edu 37 5 54771251 54771251 + Nonsense_Mutation SNP G G T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr5:54771251G>T ENST00000307259.8 - 2 506 c.86C>A c.(85-87)tCa>tAa p.S29* PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 29 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GGTATGCCTTGAAGTAAGAAT 0.348 3 18 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32180925 32180925 + Missense_Mutation SNP T T C rs34199829 TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr6:32180925T>C ENST00000375023.3 - 15 2563 c.2425A>G c.(2425-2427)Agc>Ggc p.S809G NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 809 EGF-like 21. S -> I (in dbSNP:rs3132961). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCTGCACAGCTGGGGCGGAGC 0.637 4 64 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152651002 152651002 + Missense_Mutation SNP T T G TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr6:152651002T>G ENST00000367255.5 - 78 15419 c.14818A>C c.(14818-14820)Atc>Ctc p.I4940L SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4940 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATTCATGATTCTCAAGCTG 0.493 HNSCC(10;0.0054) 68 137 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560578 161560578 + Missense_Mutation SNP C C G TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr6:161560578C>G ENST00000320285.4 - 8 1130 c.918G>C c.(916-918)tgG>tgC p.W306C AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 306 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) TCACGAGGGTCCAGGGCCGCC 0.627 24 92 --- --- --- --- PEX2 5828 broad.mit.edu 37 8 77895775 77895775 + Nonsense_Mutation SNP G G A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr8:77895775G>A ENST00000419564.2 - 4 1104 c.640C>T c.(640-642)Cag>Tag p.Q214* PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214* NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 214 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TTCAACTTCTGGACATTGATA 0.398 13 96 --- --- --- --- SVEP1 79987 broad.mit.edu 37 9 113312165 113312165 + Nonsense_Mutation SNP C C A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr9:113312165C>A ENST00000401783.2 - 2 1087 c.751G>T c.(751-753)Gaa>Taa p.E251* SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 251 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCTCAAATTCTTCAAAACTG 0.463 6 22 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37422959 37422959 + Missense_Mutation SNP G G T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr10:37422959G>T ENST00000374660.1 + 5 664 c.565G>T c.(565-567)Gct>Tct p.A189S ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 245 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGAACATTATGCTGTTACTTG 0.373 53 104 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92577145 92577145 + Missense_Mutation SNP C C T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr11:92577145C>T ENST00000298047.6 + 18 10629 c.10612C>T c.(10612-10614)Cgc>Tgc p.R3538C FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3538 Cadherin 32. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CACTTACATCCGCGTGCGAGT 0.468 TCGA Ovarian(4;0.039) 11 284 --- --- --- --- MTNR1B 4544 broad.mit.edu 37 11 92702949 92702949 + Missense_Mutation SNP C C T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr11:92702949C>T ENST00000257068.2 + 1 64 c.58C>T c.(58-60)Ccg>Tcg p.P20S NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 20 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GGCAGTGCGCCCGGGCTGGTC 0.741 6 38 --- --- --- --- LYSMD4 145748 broad.mit.edu 37 15 100269696 100269696 + Nonsense_Mutation SNP G G A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr15:100269696G>A ENST00000545021.1 - 4 959 c.145C>T c.(145-147)Cag>Tag p.Q49* LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 175 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) TCAATATCCTGGTCAATCCCC 0.582 35 100 --- --- --- --- TLDC1 57707 broad.mit.edu 37 16 84516283 84516283 + Missense_Mutation SNP G G A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr16:84516283G>A ENST00000343629.6 - 6 1174 c.992C>T c.(991-993)cCc>cTc p.P331L TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 AGCCATGCTGGGGCAGATGGA 0.562 3 43 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7811746 7811746 + Nonsense_Mutation SNP G G T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr17:7811746G>T ENST00000380358.4 + 35 5357 c.5356G>T c.(5356-5358)Gaa>Taa p.E1786* CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693* NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1727 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GCAGAATGAGGAACGGGCAGC 0.488 4 8 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8480573 8480573 + Missense_Mutation SNP C C T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr17:8480573C>T ENST00000360416.3 - 5 752 c.614G>A c.(613-615)aGa>aAa p.R205K MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000269243.4_Missense_Mutation_p.R205K NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 205 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 ATGGTCCTTTCTTCCTTTATG 0.353 30 23 --- --- --- --- TNFRSF13B 23495 broad.mit.edu 37 17 16843654 16843654 + Missense_Mutation SNP G G A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr17:16843654G>A ENST00000437538.2 - 3 487 c.479C>T c.(478-480)gCc>gTc p.A160V TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 206 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 GGAAGACTTGGCCGGACTTTG 0.657 IgA Deficiency, Selective 57 106 --- --- --- --- FAM83G 644815 broad.mit.edu 37 17 18875037 18875037 + Missense_Mutation SNP C C A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr17:18875037C>A ENST00000388995.6 - 6 2330 c.2107G>T c.(2107-2109)Gtc>Ttc p.V703F SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 703 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GAGGCAGGGACCCTGTGATGA 0.622 27 53 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12954360 12954360 + Missense_Mutation SNP G G C TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr19:12954360G>C ENST00000251472.4 + 4 305 c.266G>C c.(265-267)tGg>tCg p.W89S MAST1_ENST00000591495.1_Missense_Mutation_p.W85S NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 89 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 GGACGCCGGTGGTCTCTGGCC 0.657 46 67 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42608481 42608481 + Missense_Mutation SNP T T A TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr22:42608481T>A ENST00000359486.3 - 1 2967 c.2831A>T c.(2830-2832)aAc>aTc p.N944I TCF20_ENST00000335626.4_Missense_Mutation_p.N944I NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 944 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 AGATTTCTTGTTGTTGAAACT 0.493 24 83 --- --- --- --- DCAF12L1 139170 broad.mit.edu 37 X 125685925 125685925 + Missense_Mutation SNP C C G TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chrX:125685925C>G ENST00000371126.1 - 1 909 c.667G>C c.(667-669)Gac>Cac p.D223H NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 223 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TTGTCCGGGTCCATCCGCCAC 0.657 6 40 --- --- --- --- ANKRD37 353322 broad.mit.edu 37 4 186318457 186318458 + Splice_Site INS - - T TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr4:186318457_186318458insT ENST00000335174.4 + 2 620 c.e2+1 ANKRD37_ENST00000507479.1_Splice_Site NM_181726.2 NP_859077.1 Q7Z713 ANR37_HUMAN ankyrin repeat domain 37 cytoplasm|nucleus NS(1)|large_intestine(1)|lung(1) 3 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155) CAACCAGCAGGTAACTAGGTAA 0.535 14 44 --- --- --- --- PLIN3 10226 broad.mit.edu 37 19 4852140 4852141 + Frame_Shift_Del DEL TT TT - TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr19:4852140_4852141delTT ENST00000221957.4 - 5 697_698 c.521_522delAA c.(520-522)caafs p.Q174fs PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 174 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CCATGACCGATTGGACGCCGCC 0.663 OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 45 --- --- --- --- ATF4 468 broad.mit.edu 37 22 39917951 39917951 + Frame_Shift_Del DEL C C - TCGA-J9-A52B-01A-11D-A26M-08 TCGA-J9-A52B-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97303517-3824-482e-b245-cd3da03be6f1 6660b8f2-95ae-4689-a6e0-ed2edba45ccf g.chr22:39917951delC ENST00000337304.2 + 2 1282 c.400delC c.(400-402)cccfs p.P135fs ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 135 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) TAATAAGCAGCCCCCCCAGAC 0.527 80 264 --- --- --- ---