#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CATSPER4	378807	broad.mit.edu	37	1	26524560	26524560	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:26524560T>G	ENST00000456354.2	+	5	737	c.670T>G	c.(670-672)Ttc>Gtc	p.F224V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	224					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCTCTTCTTCATGCTGGT	0.597																																						uc010oez.1																			0				ovary(1)	1						c.(670-672)TTC>GTC		cation channel, sperm associated 4							188.0	171.0	177.0					1																	26524560		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524560T>G	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.670T>G	1.37:g.26524560T>G	ENSP00000390423:p.Phe224Val					CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.2_RNA	p.F224V	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	5	670	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	224			Helical; Name=Segment S5; (Potential).		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.670T>G	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128218	0.37533	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98164	-4.76;-4.76	4.6	3.46	0.39613	Ion transport (1);	0.122314	0.37095	N	0.002247	D	0.95169	0.8434	L	0.38838	1.175	0.36558	D	0.872257	B;B	0.24426	0.103;0.041	B;B	0.25614	0.062;0.016	D	0.92705	0.6178	10	0.87932	D	0	-13.2209	6.9393	0.24484	0.0:0.108:0.0:0.892	.	224;224	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	V	224	ENSP00000341006:F224V;ENSP00000390423:F224V	ENSP00000341006:F224V	F	+	1	0	CATSPER4	26397147	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.956000	0.40382	0.614000	0.30107	0.460000	0.39030	TTC		0.597	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	
SDCCAG8	10806	broad.mit.edu	37	1	243507526	243507526	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507526G>C	ENST00000366541.3	+	12	1484	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E311Q|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E413Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	456	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGTGTGTGGAGAAATGCGCTA	0.423																																						uc001hzw.2																			0					0						c.(1366-1368)GAA>CAA		serologically defined colon cancer antigen 8							93.0	91.0	92.0					1																	243507526		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507526G>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1366G>C	1.37:g.243507526G>C	ENSP00000355499:p.Glu456Gln					SDCCAG8_uc010pyk.1_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E268Q	p.E456Q	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1522	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	456			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1366G>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781145	0.70222	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.52295	0.81;0.72;0.75;0.67	6.07	6.07	0.98685	.	0.047828	0.85682	D	0.000000	T	0.68430	0.3000	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59511	-0.7441	10	0.25106	T	0.35	-17.7359	20.6525	0.99598	0.0:0.0:1.0:0.0	.	413;456	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	413;456;311;236	ENSP00000348137:E413Q;ENSP00000355499:E456Q;ENSP00000341260:E311Q;ENSP00000410200:E236Q	ENSP00000341260:E311Q	E	+	1	0	SDCCAG8	241574149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.224000	0.78042	2.890000	0.99128	0.585000	0.79938	GAA		0.423	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
SDCCAG8	10806	broad.mit.edu	37	1	243507574	243507574	+	Missense_Mutation	SNP	G	G	A	rs576988620		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507574G>A	ENST00000366541.3	+	12	1532	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E327K|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E429K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	472	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATGAGGCAGAAAAGGAGCA	0.393																																						uc001hzw.2																			0					0						c.(1414-1416)GAA>AAA		serologically defined colon cancer antigen 8							117.0	113.0	114.0					1																	243507574		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507574G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1414G>A	1.37:g.243507574G>A	ENSP00000355499:p.Glu472Lys					SDCCAG8_uc010pyk.1_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E284K	p.E472K	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1570	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	472			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1414G>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852367	0.91355	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.55930	0.55;0.49;0.61;0.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.57441	-0.7811	10	0.30078	T	0.28	-17.1412	20.6525	0.99598	0.0:0.0:1.0:0.0	.	429;472	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	429;472;327;252	ENSP00000348137:E429K;ENSP00000355499:E472K;ENSP00000341260:E327K;ENSP00000410200:E252K	ENSP00000341260:E327K	E	+	1	0	SDCCAG8	241574197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.224000	0.78042	2.890000	0.99128	0.585000	0.79938	GAA		0.393	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
OGDHL	55753	broad.mit.edu	37	10	50959004	50959004	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr10:50959004C>A	ENST00000374103.4	-	7	862	c.777G>T	c.(775-777)tgG>tgT	p.W259C	OGDHL_ENST00000432695.1_Missense_Mutation_p.W50C|OGDHL_ENST00000419399.1_Missense_Mutation_p.W202C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	259					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTCTGAGGACCATTTCCGGG	0.562																																						uc001jie.2																			0				pancreas(1)	1						c.(775-777)TGG>TGT		oxoglutarate dehydrogenase-like isoform a							69.0	57.0	61.0					10																	50959004		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959004C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.777G>T	10.37:g.50959004C>A	ENSP00000363216:p.Trp259Cys					OGDHL_uc009xog.2_Missense_Mutation_p.W286C|OGDHL_uc010qgt.1_Missense_Mutation_p.W202C|OGDHL_uc010qgu.1_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C	p.W259C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			7	919	-			259					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.777G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769624	0.90020	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95918	-3.85;-3.85;-3.85	6.03	6.03	0.97812	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79108	0.981;0.967;0.992	D	0.98391	1.0563	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	202;50;259	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	259;202;50	ENSP00000363216:W259C;ENSP00000401356:W202C;ENSP00000390240:W50C	ENSP00000363216:W259C	W	-	3	0	OGDHL	50629010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.574000	0.82434	2.854000	0.98071	0.655000	0.94253	TGG		0.562	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
CYSLTR2	57105	broad.mit.edu	37	13	49280992	49280992	+	Silent	SNP	C	C	T	rs201922826		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr13:49280992C>T	ENST00000282018.3	+	1	42	c.39C>T	c.(37-39)tcC>tcT	p.S13S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	13					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CATCCATCTCCGTATCAGAAA	0.373																																						uc010acx.1																			0				lung(2)	2						c.(37-39)TCC>TCT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						77.0	81.0	80.0					13																	49280992		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49280992C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.39C>T	13.37:g.49280992C>T						CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc010acw.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S	p.S13S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	722	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	13			Extracellular (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.39C>T	CCDS9412.1																																																																																				0.373	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		
SLC27A2	11001	broad.mit.edu	37	15	50515253	50515253	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:50515253A>G	ENST00000267842.5	+	5	1296	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	Y_RNA_ENST00000363735.1_RNA|SLC27A2_ENST00000380902.4_Missense_Mutation_p.D302G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D120G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	355					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATTTGGGGACATATGCATC	0.428																																						uc001zxw.2																			0				ovary(1)|skin(1)	2						c.(1063-1065)GAC>GGC		solute carrier family 27 (fatty acid							183.0	166.0	172.0					15																	50515253		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50515253A>G	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1064A>G	15.37:g.50515253A>G	ENSP00000267842:p.Asp355Gly					SLC27A2_uc010bes.2_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.2_Missense_Mutation_p.D120G	p.D355G	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1296	+		all_lung(180;0.00177)	355			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1064A>G	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064520	0.55432	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.44881	0.91;1.1;1.1	5.93	5.93	0.95920	AMP-dependent synthetase/ligase (1);	0.419817	0.28360	N	0.015632	T	0.47637	0.1456	M	0.71581	2.175	0.50171	D	0.999855	P;P	0.47191	0.697;0.891	B;B	0.44044	0.326;0.439	T	0.48352	-0.9043	10	0.38643	T	0.18	.	14.3464	0.66668	1.0:0.0:0.0:0.0	.	302;355	Q6PF09;O14975	.;S27A2_HUMAN	G	302;355;120	ENSP00000370289:D302G;ENSP00000267842:D355G;ENSP00000444549:D120G	ENSP00000267842:D355G	D	+	2	0	SLC27A2	48302545	0.998000	0.40836	0.917000	0.36280	0.137000	0.21094	3.846000	0.55888	2.281000	0.76405	0.533000	0.62120	GAC		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
SEC11A	23478	broad.mit.edu	37	15	85234816	85234816	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:85234816C>T	ENST00000268220.7	-	2	751	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SEC11A_ENST00000560266.1_Silent_p.K37K|SEC11A_ENST00000455959.3_Silent_p.K11K|SEC11A_ENST00000558134.1_Silent_p.K37K	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CCATTAACCCCTTCCAGATCA	0.408																																						uc002blb.1																			0				ovary(1)	1						c.(109-111)AAG>AAA		SEC11-like 1							106.0	98.0	101.0					15																	85234816		1893	4123	6016	SO:0001819	synonymous_variant	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85234816C>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.111G>A	15.37:g.85234816C>T						SEC11A_uc002blc.1_Silent_p.K11K	p.K37K	NM_014300	NP_055115	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		2	479	-			37			Lumenal (Potential).		B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	c.111G>A	CCDS45340.1																																																																																				0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300	
C16orf54	283897	broad.mit.edu	37	16	29755735	29755735	+	Missense_Mutation	SNP	C	C	T	rs199652256	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:29755735C>T	ENST00000329410.3	-	2	633	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	180						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAACTGGACGCTGGCCTCT	0.711																																						uc002dtp.2																			0					0						c.(538-540)GTC>ATC		hypothetical protein LOC283897							5.0	7.0	6.0					16																	29755735		2116	4223	6339	SO:0001583	missense	283897					integral to membrane		g.chr16:29755735C>T	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.538G>A	16.37:g.29755735C>T	ENSP00000327506:p.Val180Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	p.V180I	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			2	647	-			180					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.538G>A	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	2.444	-0.327991	0.05314	.	.	ENSG00000185905	ENST00000329410	.	.	.	5.22	-8.5	0.00927	.	3.565590	0.01530	U	0.018753	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11842	-1.0571	9	0.46703	T	0.11	1.8127	2.2093	0.03944	0.2221:0.1706:0.1051:0.5022	.	180	Q6UWD8	CP054_HUMAN	I	180	.	ENSP00000327506:V180I	V	-	1	0	C16orf54	29663236	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.043000	0.00631	-1.267000	0.02443	0.313000	0.20887	GTC		0.711	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900	
PKD1L2	114780	broad.mit.edu	37	16	81211460	81211460	+	RNA	SNP	C	C	T	rs370023428		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:81211460C>T	ENST00000527937.1	-	0	319				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTGTGGAGGCGTTGCAGAAG	0.592																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2389-2391)GCC>ACC		polycystin 1-like 2 isoform a		C	THR/ALA,THR/ALA	0,4072		0,0,2036	88.0	93.0	91.0		2389,2389	-7.5	0.0	16		91	1,8363		0,1,4181	no	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	58,58	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	benign,benign	797/992,797/2460	81211460	1,12435	2036	4182	6218			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81211460C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81211460C>T						PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	p.A797T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			14	2389	-			797			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2389G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.017|0.017	-1.490576|-1.490576	0.01018|0.01018	0.0|0.0	1.2E-4|1.2E-4	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114|ENST00000526632	T;T|.	0.69561|.	-0.41;-0.41|.	4.89|4.89	-7.47|-7.47	0.01365|0.01365	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.868013|.	0.10134|.	N|.	0.711723|.	T|T	0.40272|0.40272	0.1110|0.1110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.41034|0.41034	-0.9531|-0.9531	9|4	0.06365|.	T|.	0.9|.	-0.5638|-0.5638	15.8187|15.8187	0.78624|0.78624	0.0:0.1412:0.0:0.8588|0.0:0.1412:0.0:0.8588	.|.	797;797|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	T|H	112;797|324	ENSP00000436309:A112T;ENSP00000337397:A797T|.	ENSP00000337397:A797T|.	A|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79768961|79768961	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.102000|0.102000	0.19082|0.19082	-0.882000|-0.882000	0.04174|0.04174	-1.419000|-1.419000	0.02012|0.02012	-0.272000|-0.272000	0.10252|0.10252	GCC|CGC		0.592	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1		
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C	rs199712484		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S83R(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)			GCTTGCAGCAGCTGGACACAC	0.662																																						uc002hvz.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(247-249)AGC>AGG		keratin associated protein 4-11																																				SO:0001583	missense	653240					keratin filament		g.chr17:39274319G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.249C>G	17.37:g.39274319G>C	ENSP00000375232:p.Ser83Arg						p.S83R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	288	-		Breast(137;0.000496)	83			12.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.249C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.769671	0.31320	.	.	ENSG00000212721	ENST00000391413	T	0.00686	5.85	4.12	0.987	0.19790	.	8.728350	0.01373	U	0.012645	T	0.01835	0.0058	M	0.85710	2.77	0.20489	N	0.999895	B	0.21381	0.055	B	0.12156	0.007	T	0.50676	-0.8800	10	0.66056	D	0.02	.	3.7776	0.08667	0.3083:0.1839:0.5078:0.0	.	83	Q9BYQ6	KR411_HUMAN	R	83	ENSP00000375232:S83R	ENSP00000375232:S83R	S	-	3	2	KRTAP4-11	36527845	0.052000	0.20516	0.390000	0.26220	0.120000	0.20174	0.102000	0.15272	0.075000	0.16796	0.511000	0.50034	AGC		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KCTD2	23510	broad.mit.edu	37	17	73043590	73043590	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:73043590A>G	ENST00000322444.6	+	1	251	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_5'Flank|ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	82	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGGCACCTACTTCGTGACC	0.711																																						uc002jmp.2																			0					0						c.(244-246)TAC>TGC		potassium channel tetramerisation domain							25.0	26.0	26.0					17																	73043590		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73043590A>G	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.245A>G	17.37:g.73043590A>G	ENSP00000312814:p.Tyr82Cys					KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA	p.Y82C	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			1	312	+	all_lung(278;0.226)		82			BTB.			Missense_Mutation	SNP	ENST00000322444.6	37	c.245A>G	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180201	0.57800	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.43294	0.95	4.23	3.04	0.35103	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.36672	1.1	0.58432	D	0.999999	B	0.25955	0.138	B	0.31751	0.135	T	0.18555	-1.0333	10	0.41790	T	0.15	.	9.4274	0.38588	0.8408:0.0:0.0:0.1591	.	82	Q14681	KCTD2_HUMAN	C	82;64	ENSP00000312814:Y82C	ENSP00000312814:Y82C	Y	+	2	0	KCTD2	70555185	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	1.670000	0.50864	0.443000	0.29094	TAC		0.711	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1		
ZNF525	170958	broad.mit.edu	37	19	53885026	53885026	+	Silent	SNP	T	T	C	rs61741918	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr19:53885026T>C	ENST00000355326.3	+	1	348	c.348T>C	c.(346-348)ctT>ctC	p.L116L	ZNF525_ENST00000467003.1_Silent_p.L362L|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Silent_p.L398L			Q8N782	ZN525_HUMAN	zinc finger protein 525	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TGTCAACCCTTACATGCCATC	0.383													.|||	293	0.0585064	0.0045	0.196	5008	,	,		23300	0.0		0.0865	False		,,,				2504	0.0654					uc010eqn.2																			0					0						c.(1084-1086)CTT>CTC		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001819	synonymous_variant	170958							g.chr19:53885026T>C	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.348T>C	19.37:g.53885026T>C						ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	p.L362L	NR_003699						4	1279	+								Q8TF23	Silent	SNP	ENST00000355326.3	37	c.1086T>C																																																																																					0.383	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(394-396)CGT>CAT		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CATGGCCTTCGCCGCCTGCCT	0.751																																						uc002vss.3																			0				skin(1)	1						c.(1450-1452)GCC>ACC		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						13.0	16.0	15.0					2																	233274433		2183	4267	6450	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274433G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1450G>A	2.37:g.233274433G>A	ENSP00000295453:p.Ala484Thr						p.A484T	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1503	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	484					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1450G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC		0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
SPP2	6694	broad.mit.edu	37	2	234967503	234967503	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:234967503C>G	ENST00000168148.3	+	3	322	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SPP2_ENST00000373368.1_Missense_Mutation_p.N78K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	78					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGAGAACAACTTGGTCATGA	0.423																																						uc002vvk.1																			0					0						c.(232-234)AAC>AAG		secreted phosphoprotein 2, 24kDa precursor							129.0	117.0	121.0					2																	234967503		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234967503C>G		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.234C>G	2.37:g.234967503C>G	ENSP00000168148:p.Asn78Lys					SPP2_uc010fyl.1_5'UTR	p.N78K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	3	319	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	78					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.234C>G	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936469	0.18206	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.41065	1.01;1.01	5.22	-1.59	0.08453	.	1.324860	0.05122	N	0.490862	T	0.25082	0.0609	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.21930	-1.0231	10	0.51188	T	0.08	-0.1243	0.6309	0.00794	0.2786:0.3429:0.1288:0.2497	.	78	Q13103	SPP24_HUMAN	K	78	ENSP00000362466:N78K;ENSP00000168148:N78K	ENSP00000168148:N78K	N	+	3	2	SPP2	234632242	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-0.128000	0.10531	-0.350000	0.08262	-0.234000	0.12200	AAC		0.423	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	
PER2	8864	broad.mit.edu	37	2	239157759	239157759	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:239157759G>A	ENST00000254657.3	-	22	3841	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1188	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGACCTCGCGCAGCTCCTGC	0.567																																						uc002vyc.2																			0				upper_aerodigestive_tract(1)|breast(1)	2						c.(3562-3564)CGC>TGC		period 2							123.0	134.0	131.0					2																	239157759		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157759G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3562C>T	2.37:g.239157759G>A	ENSP00000254657:p.Arg1188Cys					PER2_uc010znv.1_Missense_Mutation_p.R1188C	p.R1188C	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	22	3799	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1188			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3562C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438901	0.12104	.	.	ENSG00000132326	ENST00000254657	T	0.14391	2.51	5.32	1.14	0.20703	Period circadian-like, C-terminal (1);	0.843059	0.10856	N	0.626645	T	0.10121	0.0248	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.08055	0.003;0.003	T	0.36407	-0.9749	10	0.54805	T	0.06	-0.158	1.3987	0.02266	0.1677:0.137:0.3825:0.3129	.	1188;1188	B4DH14;O15055	.;PER2_HUMAN	C	1188	ENSP00000254657:R1188C	ENSP00000254657:R1188C	R	-	1	0	PER2	238822498	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	0.218000	0.17622	0.304000	0.22809	-0.274000	0.10170	CGC		0.567	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
CHD6	84181	broad.mit.edu	37	20	40049780	40049780	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:40049780C>T	ENST00000373233.3	-	31	5672	c.5495G>A	c.(5494-5496)tGt>tAt	p.C1832Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1832					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGGAGTCACAGACACTAAG	0.388																																						uc002xka.1																			0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5494-5496)TGT>TAT		chromodomain helicase DNA binding protein 6							121.0	134.0	129.0					20																	40049780		2202	4300	6502	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049780C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5495G>A	20.37:g.40049780C>T	ENSP00000362330:p.Cys1832Tyr						p.C1832Y	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5673	-		Myeloproliferative disorder(115;0.00425)	1832					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5495G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	5.418	0.262234	0.10239	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.82	2.83	0.33086	.	0.192589	0.37715	N	0.001980	T	0.66509	0.2796	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54853	-0.8231	10	0.02654	T	1	-0.5652	4.9821	0.14170	0.0:0.5264:0.1432:0.3304	.	1832	Q8TD26	CHD6_HUMAN	Y	1832	ENSP00000362330:C1832Y	ENSP00000362330:C1832Y	C	-	2	0	CHD6	39483194	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	0.223000	0.17719	0.368000	0.24481	0.655000	0.94253	TGT		0.388	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PREX1	57580	broad.mit.edu	37	20	47267957	47267957	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:47267957C>T	ENST00000371941.3	-	22	2654	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	PREX1_ENST00000396220.1_Missense_Mutation_p.G878S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	878					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGAAGCAGCCGCGGGGCTCC	0.607																																						uc002xtw.1																			0				lung(3)|ovary(2)|pancreas(1)	6						c.(2632-2634)GGC>AGC		phosphatidylinositol-3,4,							48.0	42.0	44.0					20																	47267957		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47267957C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2632G>A	20.37:g.47267957C>T	ENSP00000361009:p.Gly878Ser					PREX1_uc002xtv.1_Missense_Mutation_p.G175S	p.G878S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		22	2655	-			878					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2632G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501514	0.96371	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66280	-0.2;-0.2	4.71	4.71	0.59529	.	0.000000	0.56097	U	0.000033	T	0.78502	0.4293	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80070	-0.1536	10	0.49607	T	0.09	.	17.6886	0.88263	0.0:1.0:0.0:0.0	.	878;175	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	S	878	ENSP00000361009:G878S;ENSP00000379522:G878S	ENSP00000361009:G878S	G	-	1	0	PREX1	46701364	1.000000	0.71417	0.970000	0.41538	0.975000	0.68041	7.759000	0.85235	2.152000	0.67230	0.563000	0.77884	GGC		0.607	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589147	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:67589147A>G	ENST00000521381.1	+	10	1751	c.1135A>G	c.(1135-1137)Aaa>Gaa	p.K379E	PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379E|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GGGAAATAACAAATTAATCAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1135-1137)AAA>GAA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						53.0	59.0	57.0					5																	67589147		2189	4293	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589147A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1135A>G	5.37:g.67589147A>G	ENSP00000428056:p.Lys379Glu	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.K379E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109E|PIK3R1_uc003jve.2_Missense_Mutation_p.K58E|PIK3R1_uc011crb.1_Missense_Mutation_p.K49E	p.K379E	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1695	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1135A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785206	0.90282	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	M	0.85099	2.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.80764	0.984;0.989;0.98;0.994	D	0.95469	0.8550	10	0.87932	D	0	-33.0253	15.5279	0.75925	1.0:0.0:0.0:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	E	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379E;ENSP00000429277:K379E;ENSP00000379855:K379E;ENSP00000274335:K379E;ENSP00000430126:K109E;ENSP00000323512:K79E;ENSP00000431058:K16E;ENSP00000338554:K109E;ENSP00000429156:K52E;ENSP00000430098:K16E	ENSP00000274335:K379E	K	+	1	0	PIK3R1	67624903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.313000	0.78055	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
ARSK	153642	broad.mit.edu	37	5	94936730	94936730	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:94936730T>C	ENST00000380009.4	+	7	1481	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	426					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CCACTGGAAATATATAGCCTA	0.368																																						uc003kld.2																			0				pancreas(1)	1						c.(1276-1278)TAT>CAT		arylsulfatase K precursor							137.0	130.0	132.0					5																	94936730		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94936730T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1276T>C	5.37:g.94936730T>C	ENSP00000369346:p.Tyr426His					ARSK_uc010jbg.2_Missense_Mutation_p.Y267H|ARSK_uc011cum.1_RNA	p.Y426H	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	7	1434	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	426					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.1276T>C	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320171	0.60634	.	.	ENSG00000164291	ENST00000380009	D	0.99908	-7.83	5.84	5.84	0.93424	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99919	0.9962	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95867	0.8888	10	0.87932	D	0	-17.1522	16.2167	0.82231	0.0:0.0:0.0:1.0	.	426	Q6UWY0	ARSK_HUMAN	H	426	ENSP00000369346:Y426H	ENSP00000369346:Y426H	Y	+	1	0	ARSK	94962486	1.000000	0.71417	0.993000	0.49108	0.101000	0.19017	7.559000	0.82265	2.231000	0.72958	0.533000	0.62120	TAT		0.368	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						uc003krl.2																			0					0						c.(121-126)AAGAGAfs		adaptor-related protein complex 3, sigma 1																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs					AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs	p.K41fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	237_240	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41_42					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
PCDHB18	54660	broad.mit.edu	37	5	140615413	140615413	+	RNA	SNP	C	C	G	rs3733683	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:140615413C>G	ENST00000526308.1	+	0	1476					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGGGACACCCAGGCTGAAAA	0.522													C|||	590	0.117812	0.1271	0.1801	5008	,	,		18215	0.0397		0.159	False		,,,				2504	0.0992					uc003ljc.1																			0				ovary(1)	1						c.(1126-1128)CCC>CCG		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615413C>G	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615413C>G							p.P376P	NR_001281						1	1476	+								B3KTF8	Silent	SNP	ENST00000526308.1	37	c.1128C>G																																																																																					0.522	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1		
MSH5	4439	broad.mit.edu	37	6	31729252	31729252	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:31729252G>A	ENST00000375755.3	+	22	2327	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	MSH5_ENST00000431848.2_Missense_Mutation_p.D380N|MSH5_ENST00000534153.4_Missense_Mutation_p.D698N|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.D698N|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.D682N|MSH5_ENST00000375750.3_Missense_Mutation_p.D681N|MSH5_ENST00000375742.3_Missense_Mutation_p.D698N|MSH5_ENST00000375740.3_Missense_Mutation_p.D699N|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000395853.1_Missense_Mutation_p.D355N	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	681					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTTGCAGGTGGATGGGCTCGC	0.577								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1																			0				ovary(2)|breast(1)	3						c.(2041-2043)GAT>AAT	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							67.0	66.0	67.0					6																	31729252		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31729252G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2041G>A	6.37:g.31729252G>A	ENSP00000364908:p.Asp681Asn					MSH5_uc003nwt.1_Missense_Mutation_p.D698N|MSH5_uc003nwu.1_Missense_Mutation_p.D682N|MSH5_uc003nww.1_Missense_Mutation_p.D681N|MSH5_uc003nwx.1_Missense_Mutation_p.D699N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	p.D681N	NM_172166	NP_751898	O43196	MSH5_HUMAN			22	2120	+			681					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.2041G>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396404	0.83011	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.4	5.4	0.78164	DNA mismatch repair protein MutS, C-terminal (3);	0.098210	0.64402	D	0.000002	D	0.96827	0.8964	H	0.96489	3.83	0.37476	D	0.915796	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.991;0.995;0.997;0.984;0.987	D	0.97493	1.0055	9	0.87932	D	0	-23.9334	16.7038	0.85366	0.0:0.0:1.0:0.0	.	366;699;681;682;698	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	681;698;213;681;698;682;699;380;355;19;67	ENSP00000364908:D681N;ENSP00000364894:D698N;ENSP00000364903:D681N;ENSP00000431693:D698N;ENSP00000364855:D682N;ENSP00000364892:D699N;ENSP00000416784:D380N;ENSP00000379194:D355N;ENSP00000406849:D19N	ENSP00000364855:D682N	D	+	1	0	MSH5;MSH5-C6orf26	31837231	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	7.444000	0.80532	2.809000	0.96659	0.655000	0.94253	GAT		0.577	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
CD2AP	23607	broad.mit.edu	37	6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:47547178C>T	ENST00000359314.5	+	9	1417	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	321	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGAGTATTTCCAGACAATTT	0.343																																						uc003oyw.2																			0				ovary(1)|skin(1)	2						c.(961-963)CCA>TCA		CD2-associated protein							104.0	107.0	106.0					6																	47547178		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47547178C>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.961C>T	6.37:g.47547178C>T	ENSP00000352264:p.Pro321Ser						p.P321S	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		9	1417	+			321			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.961C>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412660	0.83340	.	.	ENSG00000198087	ENST00000359314	D	0.90504	-2.68	5.47	4.6	0.57074	Src homology-3 domain (5);	0.050714	0.85682	N	0.000000	D	0.96719	0.8929	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97981	1.0349	10	0.87932	D	0	-9.1713	14.0795	0.64912	0.0:0.9278:0.0:0.0722	.	321	Q9Y5K6	CD2AP_HUMAN	S	321	ENSP00000352264:P321S	ENSP00000352264:P321S	P	+	1	0	CD2AP	47655137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	1.316000	0.45131	0.585000	0.79938	CCA		0.343	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
EPHA7	2045	broad.mit.edu	37	6	94120318	94120318	+	Missense_Mutation	SNP	C	C	T	rs41273629	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:94120318C>T	ENST00000369303.4	-	3	917	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	EPHA7_ENST00000369297.1_Missense_Mutation_p.A245T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	245	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTGGGGGCGTTTTCCGCT	0.483													c|||	6	0.00119808	0.0008	0.0014	5008	,	,		18746	0.0		0.0	False		,,,				2504	0.0041					uc003poe.2																			0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(733-735)GCC>ACC		ephrin receptor EphA7 precursor		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92.0	91.0	91.0		733	4.3	1.0	6	dbSNP_127	91	10,8590	7.7+/-29.5	0,10,4290	yes	missense	EPHA7	NM_004440.3	58	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	benign	245/999	94120318	12,12994	2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120318C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.733G>A	6.37:g.94120318C>T	ENSP00000358309:p.Ala245Thr					EPHA7_uc003pof.2_Missense_Mutation_p.A245T|EPHA7_uc011eac.1_Missense_Mutation_p.A245T|EPHA7_uc003pog.3_Missense_Mutation_p.A245T	p.A245T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	974	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	245			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.733G>A	CCDS5031.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	10.57	1.386397	0.25031	4.54E-4	0.001163	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.71698	-0.59;4.42	5.46	4.3	0.51218	Growth factor, receptor (1);	0.053473	0.85682	D	0.000000	T	0.29256	0.0728	N	0.08118	0	0.28263	N	0.924721	B;B;B;B	0.16396	0.001;0.017;0.005;0.003	B;B;B;B	0.18263	0.002;0.021;0.005;0.002	T	0.11665	-1.0578	10	0.22706	T	0.39	.	13.048	0.58937	0.865:0.135:0.0:0.0	rs41273629	245;245;245;245	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	T	245	ENSP00000358309:A245T;ENSP00000358303:A245T	ENSP00000358303:A245T	A	-	1	0	EPHA7	94177039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.865000	0.69583	1.010000	0.39314	-0.259000	0.10710	GCC		0.483	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
CCDC129	223075	broad.mit.edu	37	7	31614260	31614260	+	Missense_Mutation	SNP	T	T	A	rs370670531		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:31614260T>A	ENST00000407970.3	+	7	540	c.502T>A	c.(502-504)Ttc>Atc	p.F168I	CCDC129_ENST00000409210.1_Missense_Mutation_p.F76I|CCDC129_ENST00000451887.2_Missense_Mutation_p.F194I|CCDC129_ENST00000319386.3_Missense_Mutation_p.F168I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	168										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCAGCCAGATTCCTTGGTTG	0.478																																						uc003tcj.1																			0					0						c.(502-504)TTC>ATC		coiled-coil domain containing 129							114.0	116.0	115.0					7																	31614260		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31614260T>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.502T>A	7.37:g.31614260T>A	ENSP00000384416:p.Phe168Ile					CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc011kae.1_Missense_Mutation_p.F194I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	p.F168I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			7	1495	+			168					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.502T>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	31	5.073780	0.94000	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T	0.67345	-0.26;0.32;0.42;0.39;0.19	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.81389	0.4812	M	0.74258	2.255	0.48830	D	0.999715	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.82016	-0.0666	9	.	.	.	0.7402	15.9039	0.79403	0.0:0.0:0.0:1.0	.	194;178;168;168	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	168;168;168;194;178;76	ENSP00000390544:F168I;ENSP00000313062:F168I;ENSP00000384416:F168I;ENSP00000395835:F194I;ENSP00000387214:F76I	.	F	+	1	0	CCDC129	31580785	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.538000	0.82048	2.158000	0.67659	0.460000	0.39030	TTC		0.478	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
EGFR	1956	broad.mit.edu	37	7	55219021	55219021	+	Silent	SNP	C	C	T	rs370376501		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55219021C>T	ENST00000275493.2	+	5	771	c.594C>T	c.(592-594)agC>agT	p.S198S	EGFR_ENST00000455089.1_Silent_p.S153S|EGFR_ENST00000342916.3_Silent_p.S198S|EGFR_ENST00000454757.2_Silent_p.S145S|EGFR_ENST00000344576.2_Silent_p.S198S|EGFR_ENST00000420316.2_Silent_p.S198S|EGFR_ENST00000442591.1_Silent_p.S198S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	198			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCAATGGGAGCTGCTGGGGTG	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(592-594)AGC>AGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C	,,,	0,4406		0,0,2203	142.0	143.0	143.0		594,594,594,594	4.2	1.0	7		143	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	198/1211,198/629,198/406,198/706	55219021	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55219021C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.594C>T	7.37:g.55219021C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Silent_p.S198S|EGFR_uc003tqi.2_Silent_p.S198S|EGFR_uc003tqj.2_Silent_p.S198S|EGFR_uc010kzg.1_Silent_p.S153S|EGFR_uc011kco.1_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	p.S198S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	840	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		198			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.594C>T	CCDS5514.1																																																																																				0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SULF1	23213	broad.mit.edu	37	8	70488235	70488235	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:70488235A>C	ENST00000260128.4	+	6	920	c.203A>C	c.(202-204)aAg>aCg	p.K68T	SULF1_ENST00000458141.2_Missense_Mutation_p.K68T|SULF1_ENST00000402687.4_Missense_Mutation_p.K68T|SULF1_ENST00000419716.3_Missense_Mutation_p.K68T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	68					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAACGAGAAAGATTATGGAA	0.517																																						uc010lza.1																			0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(202-204)AAG>ACG		sulfatase 1 precursor							87.0	73.0	78.0					8																	70488235		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488235A>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.203A>C	8.37:g.70488235A>C	ENSP00000260128:p.Lys68Thr					SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T|SULF1_uc003xyg.2_Missense_Mutation_p.K68T	p.K68T	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	920	+	Breast(64;0.0654)		68					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.203A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396487	0.42512	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000528783;ENST00000525999	D;D;D;D;D;T;D	0.96396	-4.0;-4.0;-3.39;-4.0;-4.0;0.8;-4.0	5.23	4.07	0.47477	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.198375	0.52532	D	0.000079	D	0.92841	0.7723	L	0.41236	1.265	0.41260	D	0.986775	B	0.16603	0.018	B	0.27796	0.083	D	0.88078	0.2805	10	0.45353	T	0.12	.	7.296	0.26393	0.7431:0.0:0.2569:0.0	.	68	Q8IWU6	SULF1_HUMAN	T	68	ENSP00000403040:K68T;ENSP00000260128:K68T;ENSP00000432178:K68T;ENSP00000385704:K68T;ENSP00000390315:K68T;ENSP00000436949:K68T;ENSP00000431753:K68T	ENSP00000260128:K68T	K	+	2	0	SULF1	70650789	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.627000	0.46469	0.841000	0.35020	0.528000	0.53228	AAG		0.517	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
ZNF251	90987	broad.mit.edu	37	8	145947815	145947815	+	Silent	SNP	G	G	A	rs369726950		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:145947815G>A	ENST00000292562.7	-	5	1505	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGCTCTGCCGCATTCATTAC	0.443																																						uc003zdv.3																			0					0						c.(1228-1230)TGC>TGT		zinc finger protein 251		G		0,4262		0,0,2131	104.0	116.0	112.0		1230	-0.4	0.9	8		112	1,8535		0,1,4267	no	coding-synonymous	ZNF251	NM_138367.1		0,1,6398	AA,AG,GG		0.0117,0.0,0.0078		410/672	145947815	1,12797	2131	4268	6399	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947815G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1230C>T	8.37:g.145947815G>A							p.C410C	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1486	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		410			C2H2-type 8.		Q2M219	Silent	SNP	ENST00000292562.7	37	c.1230C>T	CCDS47944.1																																																																																				0.443	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
GABBR2	9568	broad.mit.edu	37	9	101052880	101052880	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:101052880C>G	ENST00000259455.2	-	19	3271	c.2812G>C	c.(2812-2814)Gtc>Ctc	p.V938L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	938					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCCGAGACCATGACTCGG	0.687																																						uc004ays.2																			0				ovary(2)|skin(2)	4						c.(2812-2814)GTC>CTC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						11.0	14.0	13.0					9																	101052880		2191	4282	6473	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101052880C>G	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2812G>C	9.37:g.101052880C>G	ENSP00000259455:p.Val938Leu						p.V938L	NM_005458	NP_005449	O75899	GABR2_HUMAN			19	2968	-		Acute lymphoblastic leukemia(62;0.0527)	938			Cytoplasmic (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.2812G>C	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443556	0.96187	.	.	ENSG00000136928	ENST00000259455	T	0.80824	-1.42	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.85632	0.1271	10	0.87932	D	0	.	16.9581	0.86265	0.0:1.0:0.0:0.0	.	938	O75899	GABR2_HUMAN	L	938	ENSP00000259455:V938L	ENSP00000259455:V938L	V	-	1	0	GABBR2	100092701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.593000	0.87608	0.655000	0.94253	GTC		0.687	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
FUT7	2529	broad.mit.edu	37	9	139925805	139925805	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:139925805C>T	ENST00000314412.6	-	2	1404	c.386G>A	c.(385-387)gGc>gAc	p.G129D	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	129					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GTGGCTGAGGCCGTGGGTGTG	0.711																																						uc004ckq.2																			0					0						c.(385-387)GGC>GAC		fucosyltransferase 7							18.0	20.0	19.0					9																	139925805		2185	4281	6466	SO:0001583	missense	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925805C>T	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.386G>A	9.37:g.139925805C>T	ENSP00000318142:p.Gly129Asp					ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	p.G129D	NM_004479	NP_004470	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1235	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	129			Lumenal (Potential).		B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	37	c.386G>A	CCDS7022.1	.	.	.	.	.	.	.	.	.	.	c	6.572	0.473800	0.12521	.	.	ENSG00000180549	ENST00000314412	T	0.23552	1.9	4.74	4.74	0.60224	.	0.206043	0.42821	U	0.000659	T	0.16938	0.0407	N	0.10782	0.045	0.19945	N	0.999944	B	0.24043	0.096	B	0.36464	0.225	T	0.28681	-1.0036	10	0.27082	T	0.32	-17.2471	10.431	0.44407	0.0:0.9092:0.0:0.0908	.	129	Q11130	FUT7_HUMAN	D	129	ENSP00000318142:G129D	ENSP00000318142:G129D	G	-	2	0	FUT7	139045626	0.021000	0.18746	0.107000	0.21349	0.158000	0.22134	1.573000	0.36472	2.174000	0.68829	0.550000	0.68814	GGC		0.711	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479	
FOXR2	139628	broad.mit.edu	37	X	55650997	55650997	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:55650997C>T	ENST00000339140.3	+	1	1165	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	285					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGGAGACTCGTGTCTTAGC	0.502																																						uc004duo.2																			0				lung(2)|central_nervous_system(1)	3						c.(853-855)CGT>TGT		forkhead box R2							118.0	95.0	103.0					X																	55650997		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650997C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.853C>T	X.37:g.55650997C>T	ENSP00000427329:p.Arg285Cys						p.R285C	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	1165	+			285			Fork-head.			Missense_Mutation	SNP	ENST00000339140.3	37	c.853C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416519	0.42918	.	.	ENSG00000189299	ENST00000339140	D	0.95724	-3.79	3.33	2.46	0.29980	Transcription factor, fork head (1);	100.696000	0.05135	U	0.493204	D	0.95611	0.8573	M	0.77103	2.36	0.09310	N	0.999996	D	0.60160	0.987	P	0.46850	0.529	D	0.86348	0.1709	10	0.66056	D	0.02	.	8.0577	0.30614	0.0:0.87:0.0:0.13	.	285	Q6PJQ5	FOXR2_HUMAN	C	285	ENSP00000427329:R285C	ENSP00000427329:R285C	R	+	1	0	FOXR2	55667722	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	2.304000	0.43655	0.790000	0.33803	0.600000	0.82982	CGT		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
ATRX	546	broad.mit.edu	37	X	76872118	76872118	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:76872118C>G	ENST00000373344.5	-	22	5743	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q1805H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1843					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGAGCTTGCACTGAATAGAAG	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5527-5529)CAG>CAC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						136.0	123.0	127.0					X																	76872118		2202	4292	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872118C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5529G>C	X.37:g.76872118C>G	ENSP00000362441:p.Gln1843His					ATRX_uc004ecq.3_Missense_Mutation_p.Q1805H|ATRX_uc004eco.3_Missense_Mutation_p.Q1628H	p.Q1843H	NM_000489	NP_000480	P46100	ATRX_HUMAN			22	5761	-			1843					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5529G>C	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.58|19.58	3.854201|3.854201	0.71719|0.71719	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.93906|.	-3.31;-3.31|.	5.47|5.47	3.7|3.7	0.42460|0.42460	SNF2-related (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.86764|0.86764	0.6011|0.6011	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.998;0.999|.	D|D	0.88864|0.88864	0.3328|0.3328	10|5	0.87932|.	D|.	0|.	-5.5772|-5.5772	11.6823|11.6823	0.51466|0.51466	0.0:0.8516:0.0:0.1484|0.0:0.8516:0.0:0.1484	.|.	1805;1843|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	H|T	1843;1805|132	ENSP00000362441:Q1843H;ENSP00000378967:Q1805H|.	ENSP00000362441:Q1843H|.	Q|S	-|-	3|2	2|0	ATRX|ATRX	76758774|76758774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.048000|3.048000	0.49862|0.49862	0.598000|0.598000	0.29829|0.29829	0.544000|0.544000	0.68410|0.68410	CAG|AGT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
TBX22	50945	broad.mit.edu	37	X	79282295	79282295	+	Silent	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:79282295C>A	ENST00000373294.5	+	5	754	c.726C>A	c.(724-726)ccC>ccA	p.P242P	TBX22_ENST00000442340.1_Silent_p.P122P|TBX22_ENST00000373291.1_Silent_p.P122P|TBX22_ENST00000373296.3_Silent_p.P242P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	242					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCTTGCCCACTGAAGGTG	0.463																																						uc010nmg.1																			0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(724-726)CCC>CCA		T-box 22 isoform 1							143.0	109.0	121.0					X																	79282295		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282295C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.726C>A	X.37:g.79282295C>A						TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	p.P242P	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	860	+			242			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.726C>A	CCDS14445.1																																																																																				0.463	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
