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 DNM1P47 0 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 4 23 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158583510 158583510 + Splice_Site SNP C C T TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr1:158583510C>T ENST00000368148.3 - 50 7170 c.e50+1 SPTA1_ENST00000368147.3_Splice_Site NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTGTTCCTACCTCCCTGGAT 0.493000 27 43 0 0 0.008361 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498713 118498713 + Nonsense_Mutation SNP C C T TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr11:118498713C>T ENST00000361417.2 + 7 1585 c.1174C>T c.(1174-1176)Cga>Tga p.R392* PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R392* NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 392 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCCTGCTCCCCGAAACAAGAT 0.612000 7 114 0 0 0.001984 0 0 IL1R1 3554 broad.mit.edu 37 2 102792036 102792036 + Missense_Mutation SNP C C T TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr2:102792036C>T ENST00000410023.1 + 11 1552 c.1234C>T c.(1234-1236)Cct>Tct p.P412S IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S P14778 IL1R1_HUMAN interleukin 1 receptor, type I 412 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TAAAGTCTTGCCTGAGGTCTT 0.413000 116 193 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 43 0 0 0.006230 0 0 ACOT2 10965 broad.mit.edu 37 14 74036497 74036497 + Missense_Mutation SNP A A G TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr14:74036497A>G ENST00000238651.5 + 1 735 c.553A>G c.(553-555)Acg>Gcg p.T185A ACOT2_ENST00000538782.1_Intron NM_006821.5 NP_006812.3 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 185 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding p.T185A(1) breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) GCTGTGCCAGACGCGGCACGA 0.736000 3 9 0 0 0.000248 0 0 RP11-419C5.2 0 broad.mit.edu 37 16 70029993 70029993 + Silent SNP G G A TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr16:70029993G>A ENST00000532298.1 - 1 98 c.99C>T c.(97-99)tgC>tgT p.C33C PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000325845.7_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 ACTCGCATGGGCATGTCACTG 0.582000 7 8 0 0 0.001984 0 0 CALHM2 51063 broad.mit.edu 37 10 105209325 105209325 + Missense_Mutation SNP C C G TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr10:105209325C>G ENST00000393235.1 - 3 1571 c.374G>C c.(373-375)gGt>gCt p.G125A CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000260743.5_Missense_Mutation_p.G125A Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 125 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 ATAAGCCTCACCACGCAGCAG 0.612000 23 43 0 0 0.002780 0 0 HAUS3 79441 broad.mit.edu 37 4 2241959 2241959 + Missense_Mutation SNP G G C TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr4:2241959G>C ENST00000243706.4 - 2 944 c.715C>G c.(715-717)Caa>Gaa p.Q239E POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 239 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCTAAAAGTTGAAAATTGTCT 0.373000 12 25 0 0 0.000978 0 0 SLC26A6 65010 broad.mit.edu 37 3 48668079 48668079 + Silent SNP A A G TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr3:48668079A>G ENST00000358747.6 - 9 1396 c.1146T>C c.(1144-1146)tcT>tcC p.S382S SLC26A6_ENST00000395550.2_Silent_p.S403S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000420764.2_Silent_p.S403S|SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000337000.8_Silent_p.S296S NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CCAGGCTCCGAGACATAGAGC 0.617000 2 2 0 0 0.004672 0 0 ACOT2 10965 broad.mit.edu 37 14 74036498 74036498 + Missense_Mutation SNP C C T TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr14:74036498C>T ENST00000238651.5 + 1 736 c.554C>T c.(553-555)aCg>aTg p.T185M ACOT2_ENST00000538782.1_Intron NM_006821.5 NP_006812.3 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 185 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CTGTGCCAGACGCGGCACGAG 0.736000 3 9 0 0 0.000248 0 0 FUT4 2526 broad.mit.edu 37 11 94278321 94278321 + Missense_Mutation SNP A A C TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr11:94278321A>C ENST00000358752.2 + 1 1305 c.1022A>C c.(1021-1023)gAc>gCc p.D341A NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 341 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CACCCCGGCGACCCGCCCTCA 0.662000 4 11 0 0 0.001984 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 72 0 0 0.001168 0 0 DYNLL1 8655 broad.mit.edu 37 12 120934286 120934286 + Missense_Mutation SNP C C T TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr12:120934286C>T ENST00000550845.1 + 2 186 c.62C>T c.(61-63)tCg>tTg p.S21L DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000392509.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L P63167 DYL1_HUMAN dynein, light chain, LC8-type 1 21 actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane motor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAACAGGACTCGGTGGAGTGC 0.557000 33 67 0 0 0.002836 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 7 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 5 4 --- --- --- --- FABP5P3 0 broad.mit.edu 37 7 152140120 152140121 + RNA INS - - T rs112177366 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr7:152140120_152140121insT ENST00000477993.1 + 0 875_876 NR_002935.1 CTGTTTCTTTCTTTTTTTTTTC 0.327 2 4 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 9 7 --- --- --- --- SPTB 6710 broad.mit.edu 37 14 65266617 65266617 + Frame_Shift_Del DEL A A - TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr14:65266617delA ENST00000389722.3 - 8 965 c.912delT c.(910-912)atfs p.I304fs SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389721.5_Frame_Shift_Del_p.I304fs|SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 304 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGTACTTTTCAATCATCTTCT 0.498 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 89 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-ET-A39J-01A-11D-A19J-08 TCGA-ET-A39J-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d62899a1-d79f-4e88-b8d9-87a175bf7e67 32d1eddb-59f0-4a17-affb-eec3b4f2a652 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 10 150 --- --- --- ---