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 ACSL6 23305 broad.mit.edu 37 5 131308989 131308989 + Silent SNP G G C TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr5:131308989G>C ENST00000379264.2 - 12 1281 c.1173C>G c.(1171-1173)gtC>gtG p.V391V ACSL6_ENST00000379244.1_Silent_p.V366V|ACSL6_ENST00000296869.4_Silent_p.V391V|ACSL6_ENST00000543479.1_Silent_p.V366V|ACSL6_ENST00000379249.3_Silent_p.V366V|ACSL6_ENST00000544770.1_Silent_p.V275V|ACSL6_ENST00000379240.1_Silent_p.V366V|ACSL6_ENST00000379255.1_Silent_p.V291V|ACSL6_ENST00000357096.1_Silent_p.V291V|ACSL6_ENST00000379246.1_Silent_p.V377V|ACSL6_ENST00000431707.1_Silent_p.V346V|ACSL6_ENST00000379272.2_Silent_p.V381V NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 366 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAGTCGTGGGACCACAGGGA 0.552000 4 63 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047521 11047521 + RNA SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr21:11047521C>T ENST00000470054.1 - 0 733 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTCATAATTCGTTGAAGACA 0.348000 5 382 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 4 46 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 4 5 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 39 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648741 34648741 + Silent SNP G G A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr15:34648741G>A ENST00000537011.1 + 8 2914 c.2532G>A c.(2530-2532)ttG>ttA p.L844L NUTM1_ENST00000333756.4_Silent_p.L816L|NUTM1_ENST00000438749.3_Silent_p.L834L NUT midline carcinoma, family member 1 GCCCACCCTTGAGGTCCAAAG 0.522000 21 32 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21552977 21552977 + Silent SNP G G A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr14:21552977G>A ENST00000298694.4 + 18 3982 c.3855G>A c.(3853-3855)aaG>aaA p.K1285K ARHGEF40_ENST00000298693.3_Silent_p.K1285K Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1285 PH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GTGGCCGAAAGAAGTGCCTTC 0.527000 52 90 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511063 169511063 + Missense_Mutation SNP T T C TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr1:169511063T>C ENST00000367796.3 - 13 3481 c.3280A>G c.(3280-3282)Atg>Gtg p.M1094V F5_ENST00000367797.3_Missense_Mutation_p.M1089V P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1089 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCAAAATCCATAGAGGGCAAT 0.438000 9 118 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41337803 41337803 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr12:41337803C>T ENST00000551295.2 + 14 1631 c.1514C>T c.(1513-1515)aCg>aTg p.T505M CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M|CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M|CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 505 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.T505M(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATAGATCCTACGCGAATTATA 0.333000 4 87 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30570123 30570123 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr6:30570123C>T ENST00000376511.2 - 19 2855 c.2303G>A c.(2302-2304)cGt>cAt p.R768H NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 768 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TTCGTGGGGACGATGTCCACT 0.667000 63 79 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398424 38398424 + RNA SNP C C A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr7:38398424C>A ENST00000390346.2 - 0 226 TTCTGACTGGCTGCAATGGGA 0.438000 4 67 0.00909568 0.00909568 1 1 0 FEZF2 55079 broad.mit.edu 37 3 62358227 62358229 + In_Frame_Del DEL CCT CCT - TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr3:62358227_62358229delCCT ENST00000283268.3 - 2 609_611 c.315_317delAGG c.(313-318)ggc>gg p.GG115del FEZF2_ENST00000475839.1_In_Frame_Del_p.GG115del|FEZF2_ENST00000486811.1_In_Frame_Del_p.GG115del NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 115 Gly-rich. transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) gccgccgccgcctccgccgccgc 0.709 5 2 --- --- --- --- GIPC1 10755 broad.mit.edu 37 19 14591196 14591212 + Frame_Shift_Del DEL GTAGTGCCGGCAGCCCA GTAGTGCCGGCAGCCCA - rs148903990 byFrequency TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr19:14591196_14591212delGTAGTGCCGGCAGCCCA ENST00000393033.4 - 6 829_845 c.560_576delTGGGCTGCCGGCACTAC c.(559-576)cfs p.LGCRHY187fs GIPC1_ENST00000393029.3_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.LGCRHY90fs NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 187 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GGGCCACCTCGTAGTGCCGGCAGCCCAGCAGGCTCTG 0.677 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 52 --- --- --- ---