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 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 52 72 0 0 0.000781405 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 18 0 0 6.4e-05 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G C TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr1:38463709G>C ENST00000373016.3 - 4 595 c.427C>G c.(427-429)Ccc>Gcc p.P143A FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding p.P143S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622000 47 81 0 0 0.000781405 0 0 TEX14 56155 broad.mit.edu 37 17 56690784 56690784 + Nonsense_Mutation SNP G G A rs141801212 byFrequency TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr17:56690784G>A ENST00000389934.3 - 9 1120 c.1003C>T c.(1003-1005)Cga>Tga p.R335* TEX14_ENST00000349033.5_Nonsense_Mutation_p.R335*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.R341* NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 341 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGTTTACTCGTTCATGAAGG 0.517000 41 75 0 0 0.000228196 0 0 IGSF3 3321 broad.mit.edu 37 1 117142736 117142736 + Missense_Mutation SNP A A G rs138851517 TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr1:117142736A>G ENST00000369486.3 - 7 2621 c.1856T>C c.(1855-1857)aTc>aCc p.I619T IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 619 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCCTTCTCGATGGCAGTTCG 0.627000 3 50 0 0 6.4e-05 0 0 MOG 4340 broad.mit.edu 37 6 29639214 29639214 + Missense_Mutation SNP C C G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr6:29639214C>G ENST00000376898.3 + 8 746 c.746C>G c.(745-747)gCc>gGc p.A249G MOG_ENST00000376891.4_Missense_Mutation_p.A203G|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.A226G|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_3'UTR|MOG_ENST00000376888.2_3'UTR|MOG_ENST00000431798.2_3'UTR|MOG_ENST00000376894.4_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.A210G Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 0 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CACCTGGAAGCCCTCTCTGGC 0.488000 40 66 0 0 0.000319135 0 0 RNF216 54476 broad.mit.edu 37 7 5662650 5662650 + Silent SNP A A G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr7:5662650A>G ENST00000425013.2 - 17 2666 c.2442T>C c.(2440-2442)ccT>ccC p.P814P RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.P871P NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 814 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGTTGAACACAGGCCGCACGG 0.647000 4 142 0 0 0.00024832 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 100 0 0 6.4e-05 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 120 0 0 0.000602214 0 0 GBP5 115362 broad.mit.edu 37 1 89733152 89733152 + Missense_Mutation SNP A A C TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr1:89733152A>C ENST00000343435.5 - 5 912 c.376T>G c.(376-378)Ttt>Gtt p.F126V GBP5_ENST00000370459.3_Missense_Mutation_p.F126V|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 126 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTGTACACAAAGGTGCTGCTC 0.448000 3 45 0 0 6.4e-05 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852550 182852550 + Silent SNP C C A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr2:182852550C>A ENST00000280295.3 + 2 321 c.87C>A c.(85-87)ggC>ggA p.G29G PPP1R1C_ENST00000409137.3_Intron|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409702.1_Intron Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C 27 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) ATTAGCTGGGCTTTTGTCGTT 0.443000 53 73 2.29192e-23 3.14756e-22 0.000781405 1 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 21 0 0 6.4e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 79 0 0 3.59834e-05 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 12 0 0 0.00024832 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670993 131670993 + Missense_Mutation SNP C C T TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr9:131670993C>T ENST00000259324.5 + 3 2073 c.1550C>T c.(1549-1551)aCa>aTa p.T517I LRRC8A_ENST00000372599.3_Missense_Mutation_p.T517I|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T517I NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 517 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGCCTGAAGACACTGGAGGAG 0.622000 15 41 0 0 0.000308642 0 0 PCM1 5108 broad.mit.edu 37 8 17830011 17830011 + Missense_Mutation SNP T T G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr8:17830011T>G ENST00000325083.8 + 23 4197 c.3758T>G c.(3757-3759)tTt>tGt p.F1253C PCM1_ENST00000524226.1_Missense_Mutation_p.F1254C|PCM1_ENST00000519253.1_Missense_Mutation_p.F1253C NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 1253 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AGACGCCAGTTTGATGAAGAA 0.393000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 6 94 0 0 3.59834e-05 0 0 CYP11B1 0 broad.mit.edu 37 8 143957756 143957756 + Missense_Mutation SNP C C G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr8:143957756C>G ENST00000292427.4 - 5 887 c.855G>C c.(853-855)caG>caC p.Q285H CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q285H|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q356H NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 285 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGCTGGTGTACTGTTGAGGGC 0.582000 Familial Hyperaldosteronism type I 4 43 0 0 3.59834e-05 0 0 LRFN3 79414 broad.mit.edu 37 19 36430922 36430922 + Missense_Mutation SNP G G A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr19:36430922G>A ENST00000588831.1 + 3 1649 c.595G>A c.(595-597)Gct>Act p.A199T LRFN3_ENST00000246529.3_Missense_Mutation_p.A199T Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 199 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCGCCGGCGCTTTTTCCCG 0.677000 74 156 0 0 0.000781405 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 68 0 0 6.4e-05 0 0 UBOX5 22888 broad.mit.edu 37 20 3090865 3090865 + Missense_Mutation SNP C C T TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr20:3090865C>T ENST00000217173.2 - 5 1984 c.1513G>A c.(1513-1515)Ggc>Agc p.G505S UBOX5_ENST00000348031.2_Missense_Mutation_p.G451S|UBOX5-AS1_ENST00000446537.1_RNA NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 505 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 AGGAGGTGGCCGCAGGGCAGC 0.627000 5 154 0 0 0.000602214 0 0 CHST8 64377 broad.mit.edu 37 19 34262953 34262953 + Missense_Mutation SNP G G A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr19:34262953G>A ENST00000262622.3 + 4 1018 c.260G>A c.(259-261)cGc>cAc p.R87H CHST8_ENST00000438847.2_Missense_Mutation_p.R87H|CHST8_ENST00000434302.1_Missense_Mutation_p.R87H NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 87 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CCGAGGGGCCGCAACCTGCCA 0.667000 14 30 0 0 0.000308642 0 0 AC093838.4 0 broad.mit.edu 37 2 132269213 132269213 + RNA DEL T T - TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr2:132269213delT ENST00000438378.2 + 0 1234 NR_026922.1 tggtcctatctctccccttcc 0.527 5 8 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 3 6 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 7 119 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 5 --- --- --- ---