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 BBS2 583 broad.mit.edu 37 16 56539933 56539933 + Missense_Mutation SNP T T C TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr16:56539933T>C uc002ejd.2 - 6 967 c.733A>G c.(733-735)Atg>Gtg p.M245V BBS2_uc010ccg.2_Missense_Mutation_p.M245V NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA. 245 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 TGAATGCTCATGGCATGATTT 0.343000 Bardet-Biedl syndrome 4 76 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82036179 82036179 + Missense_Mutation SNP C C T rs147356286 TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr10:82036179C>T uc001kbw.3 - 5 976 c.721G>A c.(721-723)Gtc>Atc p.V241I NM_000429 NP_000420 Q00266 METK1_HUMAN Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. 241 S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AGGTGGTAGACGGTGTCTTCG 0.592000 7 131 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114793765 114793765 + Missense_Mutation SNP C C T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr12:114793765C>T uc001tvo.3 - 8 1624 c.1129G>A c.(1129-1131)Gct>Act p.A377T TBX5_uc001tvp.3_Missense_Mutation_p.A377T|TBX5_uc001tvq.3_Missense_Mutation_p.A327T NM_181486 NP_542448 Q99593 TBX5_HUMAN Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. 377 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TACATGCAAGCTTGCCGCTGT 0.602000 62 89 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112462655 112462655 + Silent SNP G G A TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr6:112462655G>A uc003pvu.2 - 20 3027 c.2718C>T c.(2716-2718)taC>taT p.Y906Y LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 906 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AATTATAGACGTATACCAGAT 0.368000 26 62 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32677460 32677460 + Silent SNP T T C TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr18:32677460T>C uc002kyg.3 + 2 481 c.301T>C c.(301-303)Ttg>Ctg p.L101L MAPRE2_uc010xcb.2_Silent_p.L58L|MAPRE2_uc010xcc.2_Silent_p.L89L|MAPRE2_uc002kyf.2_Silent_p.L101L|MAPRE2_uc002kyh.3_Silent_p.L48L|MAPRE2_uc010xcd.2_Silent_p.L58L NM_014268 NP_001137298 Q15555 MARE2_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA. 101 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 CTGCATTAGTTTGAAGAAAGT 0.403000 3 92 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28662246 28662246 + Silent SNP T T C TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr18:28662246T>C uc002kwl.4 - 8 1675 c.1221A>G c.(1219-1221)gtA>gtG p.V407V DSC2_uc002kwk.4_Silent_p.V407V NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 407 Cadherin 3. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGGCATCTGTTACAATTTTAA 0.308000 3 98 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638642 66638642 + Missense_Mutation SNP C C T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr11:66638642C>T uc001ojo.1 - 6 796 c.514G>A c.(514-516)Gcc>Acc p.A172T PC_uc001ojp.1_Missense_Mutation_p.A172T|PC_uc001ojn.1_Missense_Mutation_p.A172T NM_001040716 NP_071504 P11498 PYC_HUMAN Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 172 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GTGATGGGGGCATCTGTGCCA 0.622000 12 130 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127637170 127637170 + Missense_Mutation SNP C C T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr5:127637170C>T uc003kuu.3 - 46 6389 c.5950G>A c.(5950-5952)Gtg>Atg p.V1984M NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1984 EGF-like 33; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTTCTGCACACCTGACCAAAA 0.368000 6 134 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41570183 41570183 + Missense_Mutation SNP G G T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr17:41570183G>T uc002idu.1 + 5 710 c.638G>T c.(637-639)cGg>cTg p.R213L DHX8_uc010wif.1_Missense_Mutation_p.R122L|DHX8_uc010wig.2_Missense_Mutation_p.R213L NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 213 Arg/Ser-rich (RS domain). catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TCCAGGACCCGGGAGAGGAAT 0.547000 55 161 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926609 22926609 + Missense_Mutation SNP T T A TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr16:22926609T>A uc002dli.3 + 1 902 c.830T>A c.(829-831)cTc>cAc p.L277H NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 277 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity p.L277H(2) breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GGCGAGCGACTCATCACTGAC 0.557000 8 218 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104786953 104786953 + Silent SNP A A T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr7:104786953A>T uc003vcv.3 - 7 862 c.774T>A c.(772-774)ccT>ccA p.P258P SRPK2_uc003vct.3_Silent_p.P247P|SRPK2_uc003vcu.3_Silent_p.P247P|SRPK2_uc003vcw.1_Silent_p.P247P NM_182692 NP_872634 P78362 SRPK2_HUMAN Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA. 247 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CAGACCCTGAAGGAGGAGGAG 0.498000 8 44 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 102 150 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136026599 136026599 + Missense_Mutation SNP A A G TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr2:136026599A>G uc002tum.3 - 10 1436 c.1319T>C c.(1318-1320)gTg>gCg p.V440A ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.V440A|ZRANB3_uc002tun.1_3'UTR NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA. 440 Helicase C-terminal. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GTGAATATTCACAGAACTGCA 0.423000 8 194 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128186036 128186036 + Missense_Mutation SNP C C G rs112356403 TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr2:128186036C>G uc010yzi.2 + 7 1095 c.1068C>G c.(1066-1068)atC>atG p.I356M PROC_uc002tok.3_Missense_Mutation_p.I300M|PROC_uc002tol.3_Missense_Mutation_p.I321M|PROC_uc010yzj.2_Missense_Mutation_p.I195M|PROC_uc010yzk.2_Missense_Mutation_p.I355M P04070 PROC_HUMAN Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. 300 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ACAATGACATCGCACTGCTGC 0.632000 3 103 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124408831 124408831 + Missense_Mutation SNP T T C TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr12:124408831T>C uc001uft.4 + 65 11289 c.11264T>C c.(11263-11265)aTt>aCt p.I3755T DNAH10_uc001ufu.4_5'Flank NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3755 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTAGGAAACATTTCCCTGGAG 0.413000 5 11 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108697672 108697672 + Missense_Mutation SNP C C A TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr1:108697672C>A uc001dvn.4 - 5 969 c.755G>T c.(754-756)aGg>aTg p.R252M SLC25A24_uc001dvm.3_Missense_Mutation_p.R233M NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 252 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ACCATTTCCCCTCCAAAGCGA 0.388000 4 123 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161816351 161816351 + Missense_Mutation SNP A A T TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr1:161816351A>T uc001gbs.3 + 9 1417 c.1300A>T c.(1300-1302)Atc>Ttc p.I434F ATF6_uc001gbq.2_Missense_Mutation_p.I434F NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 434 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AGATGGTATTATCCAGAAAAA 0.413000 4 102 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94592844 94592844 + Missense_Mutation SNP T T G TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr11:94592844T>G uc001pfb.3 + 8 2269 c.2099T>G c.(2098-2100)tTt>tGt p.F700C AMOTL1_uc001pfc.3_Missense_Mutation_p.F650C NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN Homo sapiens angiomotin like 1 (AMOTL1), mRNA. 700 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ATCCGACACTTTGCCATGAAT 0.522000 3 21 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188584007 188584007 + Missense_Mutation SNP A A G TCGA-BJ-A0ZA-01A-11D-A10S-08 TCGA-BJ-A0ZA-10A-02D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 937b098e-73d8-4b69-be9c-552ca283f22e 85111d55-aad8-4fd5-8b75-f9ba222ba71a g.chr3:188584007A>G uc003frs.2 + 8 1676 c.1430A>G c.(1429-1431)aAt>aGt p.N477S LPP_uc011bsg.2_Missense_Mutation_p.N330S|LPP_uc011bsi.2_Missense_Mutation_p.N477S|LPP_uc011bsj.2_Missense_Mutation_p.N314S NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 477 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GAGCAGTGCAATGTGTGTTCC 0.532000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 35 48 0 0 1 0 0