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 PALMD 54873 broad.mit.edu 37 1 100154340 100154340 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:100154340C>T uc001dsg.3 + 6 967 c.524C>T c.(523-525)gCc>gTc p.A175V NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 175 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GCTTTATATGCCATGGAAATT 0.299000 18 49 0 0 1 0 0 PIAS3 10401 broad.mit.edu 37 1 145578441 145578441 + Missense_Mutation SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:145578441A>G uc001eoc.1 + 1 495 c.404A>G c.(403-405)tAt>tGt p.Y135C PIAS3_uc010oyy.1_Missense_Mutation_p.Y126C|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 135 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding p.R134W(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGCCCTTCTATGAAGTCTAT 0.582000 19 219 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160464296 160464296 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr6:160464296G>A uc003qta.3 + 11 1745 c.1597G>A c.(1597-1599)Gag>Aag p.E533K NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 533 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGGTGTCCCGAGGACGCGGC 0.493000 60 133 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96706966 96706966 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr14:96706966G>A uc010avm.1 + 2 497 c.301G>A c.(301-303)Gca>Aca p.A101T BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A74T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A101T NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 101 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GAACCTGGCCGCAGCAGACCT 0.607000 4 241 0 0 1 0 0 AQP5 362 broad.mit.edu 37 12 50357924 50357924 + Missense_Mutation SNP C C T rs117761535 byFrequency TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:50357924C>T uc001rvo.2 + 2 1100 c.578C>T c.(577-579)gCg>gTg p.A193V NM_001651 NP_001642 P55064 AQP5_HUMAN Homo sapiens aquaporin 5 (AQP5), mRNA. 193 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TTTGGCCCTGCGGTGGTCATG 0.612000 44 91 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1293592 1293592 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr5:1293592C>T uc003jcb.1 - 1 1467 c.1409G>A c.(1408-1410)cGc>cAc p.R470H TERT_uc003jcc.1_Missense_Mutation_p.R470H|TERT_uc003jca.1_Missense_Mutation_p.R470H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 470 QFP motif.|RNA-interacting domain 2.|Required for oligomerization. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACCAGCCGGCGCAGGCAGGC 0.687000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 7 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48637950 48637950 + Missense_Mutation SNP T T A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:48637950T>A uc003cub.1 - 9 1223 c.1178A>T c.(1177-1179)aAc>aTc p.N393I NM_003365 NP_003356 P31930 QCR1_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA. 393 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) TCTGAGGATGTTTTTGCCCCG 0.567000 33 57 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614041 3614041 + Silent SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr16:3614041C>T uc010btn.3 - 4 1308 c.897G>A c.(895-897)gaG>gaA p.E299E NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 299 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGAACATCTGCTCCAAACACA 0.627000 5 78 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109394761 109394761 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:109394761T>C uc001dwa.3 - 1 795 c.526A>G c.(526-528)Agg>Ggg p.R176G AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 176 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCACCATCCCTTTTCGGGTTG 0.423000 3 109 0 0 1 0 0 C7orf33 202865 broad.mit.edu 37 7 148288066 148288066 + Missense_Mutation SNP C C A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:148288066C>A uc003wew.3 + 0 410 c.49C>A c.(49-51)Ctt>Att p.L17I NM_145304 NP_660347 Q8WU49 CG033_HUMAN Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA. 17 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TCCCTGGAGACTTCCAGGCCC 0.567000 24 65 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727910 69727910 + Missense_Mutation SNP A A T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr16:69727910A>T uc002exl.2 + 12 4518 c.4182A>T c.(4180-4182)ttA>ttT p.L1394F NFAT5_uc002exj.2_Missense_Mutation_p.L1300F|NFAT5_uc002exk.2_Missense_Mutation_p.L1300F|NFAT5_uc002exn.2_Missense_Mutation_p.L1393F|NFAT5_uc002exm.2_Missense_Mutation_p.L1376F|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.L1300F NM_138713 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA. 1376 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTCTCTTCTTATCTCCAGCAT 0.453000 29 61 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719042 52719042 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:52719042C>T uc002pyp.3 + 6 1113 c.818C>T c.(817-819)gCa>gTa p.A273V PPP2R1A_uc010ydk.2_Missense_Mutation_p.A218V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A313V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A94V NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 273 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTCCAGAAAGCAGTGGGGCCT 0.577000 Mis clear cell ovarian carcinoma 29 69 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69197877 69197877 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr4:69197877T>C uc003hdx.3 - 6 1419 c.1066A>G c.(1066-1068)Aga>Gga p.R356G YTHDC1_uc003hdy.3_Missense_Mutation_p.R338G NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA. 356 YTH. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 AGGAAAAATCTTGCATCTTGA 0.343000 21 73 0 0 1 0 0 PHOX2A 401 broad.mit.edu 37 11 71950915 71950915 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr11:71950915C>T uc001osh.4 - 2 905 c.733G>A c.(733-735)Gcg>Acg p.A245T NM_005169 NP_005160 O14813 PHX2A_HUMAN Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. 245 Poly-Gly. noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 5 GCCGCTCCCGCGCCAGGCCCG 0.771000 3 8 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747584 94747584 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr8:94747584G>A uc003yfz.3 - 2 1248 c.1055C>T c.(1054-1056)cCa>cTa p.P352L RBM12B_uc022aye.1_Missense_Mutation_p.P352L NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA. 352 RRM 2. RNA binding|nucleotide binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AATATGAACTGGACGATATTG 0.363000 18 42 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160124992 160124992 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:160124992C>T uc001fve.4 + 2 844 c.365C>T c.(364-366)gCc>gTc p.A122V ATP1A4_uc001fvf.4_Non-coding_Transcript NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 122 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGCTTTGTGGCCTACAGCATC 0.517000 3 53 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155932417 155932417 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:155932417G>A uc001fmu.2 - 12 1455 c.1200C>T c.(1198-1200)taC>taT p.Y400Y ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 356 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGTCTCGGGCGTACAGCTCCT 0.557000 4 128 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204380470 204380470 + Missense_Mutation SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:204380470A>G uc001hav.4 - 0 475 c.70T>C c.(70-72)Ttt>Ctt p.F24L NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA. 24 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CGAGGGAAAAAGGGTGGCCAG 0.627000 3 134 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123805012 123805012 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:123805012G>A uc010tap.2 - 17 2634 c.2634C>T c.(2632-2634)atC>atT p.I878I SBNO1_uc010tao.2_Silent_p.I877I|SBNO1_uc010taq.2_Intron NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 878 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CAAGTTCATCGATAAGTTCAT 0.438000 34 98 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703138 74703138 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr15:74703138G>A uc002axv.3 - 13 1868 c.1828C>T c.(1828-1830)Cac>Tac p.H610Y SEMA7A_uc010ulk.2_Missense_Mutation_p.H445Y|SEMA7A_uc010ull.2_Missense_Mutation_p.H596Y NM_003612 NP_001139502 O75326 SEM7A_HUMAN Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA. 610 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CAGAAGTAGTGGCCGTACTGC 0.637000 27 44 0 0 1 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99032844 99032844 + Nonsense_Mutation SNP G G A rs138103080 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:99032844G>A uc011kiw.2 - 2 229 c.169C>T c.(169-171)Cga>Tga p.R57* ATP5J2-PTCD1_uc003uqh.3_Nonsense_Mutation_p.R8* NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 57 GCGAACAGTCGAGCGAGTCTC 0.567000 19 114 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071160 73071160 + RNA SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chrX:73071160G>A uc004ebm.1 - 0 c.1429C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. AAAGCACACAGCAAAGACAAA 0.517000 3 59 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38523689 38523689 + Splice_Site SNP G G C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:38523689G>C uc003cif.3 + 9 1099 c.1075_splice c.e9-1 p.V359_splice ACVR2B_uc003cig.3_Splice_Site_p.V150_splice NM_001106 NP_001097 Q13705 AVR2B_HUMAN Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA. 359 Protein kinase. BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CCTCACATAGGTAGGCACGAG 0.562000 26 70 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357110 38357110 + Silent SNP G G T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:38357110G>T uc010hhc.1 + 8 1482 c.1440G>T c.(1438-1440)acG>acT p.T480T SLC22A14_uc003cib.2_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 480 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) AATCCATGACGATCTTGGTGC 0.592000 74 133 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100623626 100623626 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr2:100623626G>A uc002taf.3 - 4 690 c.546C>T c.(544-546)gaC>gaT p.D182D AFF3_uc002tag.3_Silent_p.D157D|AFF3_uc010fiq.1_Silent_p.D157D|AFF3_uc010yvr.1_Silent_p.D311D|AFF3_uc002tah.1_Silent_p.D182D|AFF3_uc010fir.1_Silent_p.D234D NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 157 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCTGTTGGCCGTCAGAGGGTG 0.498000 38 69 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122168506 122168506 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:122168506G>A uc003efe.2 - 8 1020 c.832C>T c.(832-834)Ctc>Ttc p.L278F KPNA1_uc003efb.1_Missense_Mutation_p.L77F|KPNA1_uc003efc.1_Missense_Mutation_p.L77F|KPNA1_uc011bjr.1_Missense_Mutation_p.L77F|KPNA1_uc010hrh.2_Missense_Mutation_p.L77F NM_002264 NP_002255 P52294 IMA1_HUMAN Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA. 278 Binding to RAG1. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) AGATATGAGAGGGCCCAGCAG 0.433000 3 94 0 0 1 0 0 C7orf25 79020 broad.mit.edu 37 7 42971806 42971806 + Splice_Site SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:42971806G>A uc010kxr.3 - 1 1 c.-929_splice c.e1-1 PSMA2_uc003thy.3_Splice_Site|PSMA2_uc003thz.1_Splice_Site|MRPL32_uc003tia.3_5'Flank|MRPL32_uc003tib.3_5'Flank NM_001099858 NP_001093328 Q9BPX7 CG025_HUMAN Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA. endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 CACTGTGGCCGATTTCCTTTC 0.537000 22 33 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52499143 52499143 + Silent SNP C C A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:52499143C>A uc001ctj.1 - 0 330 c.291G>T c.(289-291)gcG>gcT p.A97A TXNDC12_uc001cti.3_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA. 97 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 GGGTGCGCGCCGCCCGTGCCA 0.672000 4 157 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 39 66 0 0 1 0 0 SYNGR4 23546 broad.mit.edu 37 19 48869181 48869181 + Missense_Mutation SNP G G T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:48869181G>T uc002piz.3 + 1 333 c.82G>T c.(82-84)Gtc>Ttc p.V28F TMEM143_uc002piw.1_5'Flank|TMEM143_uc010xzn.1_5'Flank|TMEM143_uc010elw.1_5'Flank|TMEM143_uc010xzo.1_5'Flank|TMEM143_uc002pix.1_5'Flank|TMEM143_uc002piy.1_5'Flank|TMEM143_uc010xzp.1_5'Flank|TMEM143_uc010xzq.1_5'Flank|Mir_324_uc021uwt.1_5'Flank NM_012451 NP_036583 O95473 SNG4_HUMAN Homo sapiens synaptogyrin 4 (SYNGR4), mRNA. 28 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CATCACGCGGGTCTTCGAAGG 0.617000 41 52 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351650 42351650 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:42351650G>A uc010xwe.2 + 1 237 c.154G>A c.(154-156)Gcc>Acc p.A52T DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.A52T NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 52 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TGGTGTCACCGCCCATCTCAA 0.617000 4 117 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52971586 52971586 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr13:52971586C>T uc001vgo.3 - 2 1347 c.802G>A c.(802-804)Gtc>Atc p.V268I THSD1_uc001vgp.3_Missense_Mutation_p.V268I|THSD1_uc010tgz.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 268 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.V268I(2) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ACTCCTTGGACGAAGGTGCAT 0.562000 30 78 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228461984 228461984 + Nonsense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:228461984G>A uc009xez.1 + 18 5566 c.5522G>A c.(5521-5523)tGg>tAg p.W1841* OBSCN_uc001hsn.3_Nonsense_Mutation_p.W1841* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1841 Ig-like 18. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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) GAGGTGGTGTGGCGCTGCGGC 0.692000 4 169 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18237559 18237559 + Nonsense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:18237559C>T uc001rdq.3 - 4 421 c.227G>A c.(226-228)tGg>tAg p.W76* NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 76 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CCCATCTGCCCAGTGAAGCTC 0.398000 55 93 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105171 151105171 + Frame_Shift_Del DEL G G - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:151105171delG uc001ewv.3 - 19 3014 c.2678delC c.(2677-2679)cctfs p.P893fs SEMA6C_uc001ewu.3_Frame_Shift_Del_p.P861fs|SEMA6C_uc001eww.3_Frame_Shift_Del_p.P853fs NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 861 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGCAGGGCAGGGGGGGCCCG 0.781 2 4 --- --- --- --- PNISR 25957 broad.mit.edu 37 6 99848406 99848406 + Frame_Shift_Del DEL A A - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr6:99848406delA uc021zdd.1 - 0 909 c.228delT c.(226-228)tttfs p.F76fs PNISR_uc021zdc.1_Intron|PNISR_uc003ppo.4_3'UTR|PNISR_uc003ppp.4_3'UTR|PNISR_uc011eag.2_3'UTR NM_032870 NP_116259 Q8TF01 PNISR_HUMAN Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA. 0 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 AAAATACTTTAAAAAGTATAC 0.348 95 138 --- --- --- --- ARID3A 1820 broad.mit.edu 37 19 929631 929631 + Frame_Shift_Del DEL C C - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:929631delC uc002lql.3 + 1 393 c.103delC c.(103-105)cccfs p.P35fs NM_005224 NP_005215 Q99856 ARI3A_HUMAN Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. 35 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTGCTGCAccccccggccg 0.741 2 4 --- --- --- --- LOC442459 442459 broad.mit.edu 37 X 98975827 98975827 + RNA DEL T T - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chrX:98975827delT uc011mrd.1 - 6 c.772delA Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. CTGGTCAAGCTTTAGAATTTG 0.398 2 4 --- --- --- ---