#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr4:1165200C>T	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	99	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711																																						uc021xkj.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(295-297)Gag>Aag		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.							25.0	27.0	27.0					4																	1165200		2182	4274	6456	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165200C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.295G>A	4.37:g.1165200C>T	ENSP00000290902:p.Glu99Lys		Somatic				SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	p.E99K	NM_001199021	NP_001185950	WXS	Illumina GAIIx	Phase_I	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	4	920	-			99			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.295G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566622	0.86439	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.67171	-0.25;-0.25;-0.25	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.989	D	0.90031	0.4135	10	0.87932	D	0	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	99;99;99	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	99	ENSP00000290902:E99K;ENSP00000394832:E99K;ENSP00000424542:E99K	ENSP00000290902:E99K	E	-	1	0	SPON2	1155200	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	5.317000	0.65822	2.053000	0.61076	0.511000	0.50034	GAG		0.711	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			12	42	0	0	0	1	0	12	42				
DENND6B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr22:50755725C>T	ENST00000413817.3	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	150					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCGCACCTTCTGGAAGTAGC	0.637																																						uc011arv.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(448-450)caG>caA		Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.							48.0	55.0	53.0					22																	50755725		2080	4223	6303	SO:0001819	synonymous_variant	414918							g.chr22:50755725C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.450G>A	22.37:g.50755725C>T			Somatic					p.Q150Q	NM_001001794	NP_001001794	WXS	Illumina GAIIx	Phase_I	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	522	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	150					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.450G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	4.307	0.056165	0.08291	.	.	ENSG00000205593	ENST00000433760	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71307	-0.4632	4	.	.	.	-31.3506	16.7848	0.85571	0.0:1.0:0.0:0.0	.	.	.	.	K	122	.	.	R	-	2	0	FAM116B	49098297	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.448000	0.52943	2.504000	0.84457	0.305000	0.20034	AGA		0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		14	18	0	0	0	1	0	14	18				
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr19:38959963G>T	ENST00000359596.3	+	27	3575	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000355481.4_Missense_Mutation_p.S1192I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGTCTGCAGCTTGGGACCT	0.647																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3574-3576)aGc>aTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						71.0	70.0	71.0					19																	38959963		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959963G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3575G>T	19.37:g.38959963G>T	ENSP00000352608:p.Ser1192Ile		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	p.S1192I	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3705	+	all_cancers(60;7.91e-06)		1192			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3575G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	9.502	1.103431	0.20632	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70986	-0.53;-0.53;-0.53	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.236375	0.28853	U	0.013934	D	0.87565	0.6209	H	0.95539	3.685	0.35819	D	0.82446	D;D	0.89917	0.993;1.0	P;D	0.83275	0.899;0.996	D	0.92881	0.6323	10	0.87932	D	0	.	12.332	0.55046	0.0:0.1718:0.8282:0.0	.	1192;1192	P21817-2;P21817	.;RYR1_HUMAN	I	1192	ENSP00000352608:S1192I;ENSP00000347667:S1192I;ENSP00000354254:S1192I	ENSP00000347667:S1192I	S	+	2	0	RYR1	43651803	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.220000	0.51207	1.900000	0.55004	0.434000	0.28630	AGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	34	0	0	0	1	0	22	34				
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:44159834C>T	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000572904.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000432791.1_Silent_p.V502V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	502					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GATCTGTCTTCACCTCAGAAC	0.428																																						uc002ikc.3																			0											c.(1504-1506)gtG>gtA		Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.							81.0	80.0	80.0					17																	44159834		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44159834C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1506G>A	17.37:g.44159834C>T			Somatic				KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V	p.V502V	NM_001193466	NP_056258	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			3	1977	-			502					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.1506G>A	CCDS11503.1																																																																																				0.428	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	27	0	0	0	1	0	4	27				
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:71380017G>A	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1568	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4702-4704)aCc>aTc		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							93.0	79.0	84.0					17																	71380017		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380017G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4703C>T	17.37:g.71380017G>A	ENSP00000376421:p.Thr1568Ile		Somatic				SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	p.T1568I	NM_001144952	NP_001138424	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			32	4703	-			1568			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4703C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657890	0.29425	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.61510	0.1;0.22;0.22	5.47	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104467	0.64402	D	0.000004	T	0.58481	0.2125	M	0.74647	2.275	0.24991	N	0.991536	B;B;B	0.33212	0.402;0.006;0.021	B;B;B	0.33620	0.167;0.021;0.059	T	0.55698	-0.8100	10	0.45353	T	0.12	.	13.6786	0.62469	0.0752:0.0:0.9248:0.0	.	1568;1568;1568	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	I	1192;1568;1568;744;1568	ENSP00000376421:T1568I;ENSP00000373378:T1568I;ENSP00000407098:T744I	ENSP00000324967:T1568I	T	-	2	0	SDK2	68891612	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	6.424000	0.73366	1.303000	0.44873	0.561000	0.74099	ACC		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	25	0	0	0	1	0	13	25				
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	T	C	rs186195231	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr11:58604779T>C	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	93						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393													T|||	16	0.00319489	0.0	0.0014	5008	,	,		20530	0.001		0.0	False		,,,				2504	0.0143					uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(277-279)aAt>aGt		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)	T	SER/ASN	0,3718		0,0,1859	225.0	208.0	213.0		278	1.9	0.0	11		213	8,8188		0,8,4090	yes	missense	GLYATL2	NM_145016.3	46	0,8,5949	CC,CT,TT		0.0976,0.0,0.0671	benign	93/295	58604779	8,11906	1859	4098	5957	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604779T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.278A>G	11.37:g.58604779T>C	ENSP00000287275:p.Asn93Ser		Somatic				GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	p.N93S	NM_145016	NP_659453	WXS	Illumina GAIIx	Phase_I	Q8WU03	GLYL2_HUMAN			3	409	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	93					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.278A>G	CCDS41649.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	7.585	0.669469	0.14776	0.0	9.76E-4	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14266	2.52;2.52	4.24	1.89	0.25635	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.033050	0.07713	U	0.942420	T	0.06554	0.0168	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	5.3587	0.16075	0.0:0.2367:0.0:0.7633	.	93	Q8WU03	GLYL2_HUMAN	S	93	ENSP00000287275:N93S;ENSP00000434277:N93S	ENSP00000287275:N93S	N	-	2	0	GLYATL2	58361355	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.371000	0.20450	0.518000	0.28383	0.524000	0.50904	AAT		0.393	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		25	32	0	0	0	1	0	25	32				
SULT1A1	6817	broad.mit.edu	37	16	28631452	28631452	+	5'UTR	SNP	T	T	C	rs546816346		TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr16:28631452T>C	ENST00000395609.1	-	0	425				SULT1A1_ENST00000350842.4_Missense_Mutation_p.M24V			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGAATGCTCATACCTATTTGC	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		16290	0.0		0.0	False		,,,				2504	0.0					uc002dqm.3																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(70-72)Atg>Gtg		Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA.							102.0	99.0	100.0					16																	28631452		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631452T>C	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-334A>G	16.37:g.28631452T>C			Somatic				NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR	p.M24V	NM_177536	NP_803880	WXS	Illumina GAIIx	Phase_I	P50225	ST1A1_HUMAN			1	459	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395609.1	37	c.70A>G	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	5.489	0.275224	0.10403	.	.	ENSG00000196502	ENST00000350842	T	0.02216	4.39	1.01	1.01	0.19927	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.14578	0.011	T	0.49409	-0.8943	8	0.87932	D	0	.	4.2403	0.10645	0.0:0.0:0.0:1.0	.	24	P50225-2	.	V	24	ENSP00000329399:M24V	ENSP00000329399:M24V	M	-	1	0	SULT1A1	28538953	0.991000	0.36638	0.972000	0.41901	0.424000	0.31475	0.207000	0.17395	0.427000	0.26145	0.076000	0.15429	ATG		0.333	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		11	9	0	0	0	1	0	11	9				
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	T	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr2:166866283C>T	ENST00000303395.4	-	20	3947	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R|SCN1A_ENST00000423058.2_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R1305R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1316					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.0					uc002udo.4																			2	Substitution - coding silent(2)	p.R1305R(1)|p.R1316R(1)	lung(2)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3946-3948)agG>agA		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	8,4398	14.3+/-33.2	0,8,2195	88.0	87.0	88.0		3948,3864,3948,3915	2.3	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,	1316/2010,1288/1982,1316/2010,1305/1999	166866283	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866283C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3948G>A	2.37:g.166866283C>T			Somatic				SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	p.R1316R	NM_001202435	NP_001189364	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			21	4175	-			1316					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3948G>A	CCDS54413.1																																																																																				0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	12	0	0	0	1	0	16	12				
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr4:1165200C>T	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	99	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711																																						uc021xkj.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(295-297)Gag>Aag		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.							25.0	27.0	27.0					4																	1165200		2182	4274	6456	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165200C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.295G>A	4.37:g.1165200C>T	ENSP00000290902:p.Glu99Lys		Somatic				SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	p.E99K	NM_001199021	NP_001185950	WXS	Illumina GAIIx	Phase_I	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	4	920	-			99			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.295G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566622	0.86439	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.67171	-0.25;-0.25;-0.25	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.989	D	0.90031	0.4135	10	0.87932	D	0	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	99;99;99	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	99	ENSP00000290902:E99K;ENSP00000394832:E99K;ENSP00000424542:E99K	ENSP00000290902:E99K	E	-	1	0	SPON2	1155200	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	5.317000	0.65822	2.053000	0.61076	0.511000	0.50034	GAG		0.711	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			12	42	0	0	0	1	0	12	42				
DENND6B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr22:50755725C>T	ENST00000413817.3	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	150					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCGCACCTTCTGGAAGTAGC	0.637																																						uc011arv.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(448-450)caG>caA		Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.							48.0	55.0	53.0					22																	50755725		2080	4223	6303	SO:0001819	synonymous_variant	414918							g.chr22:50755725C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.450G>A	22.37:g.50755725C>T			Somatic					p.Q150Q	NM_001001794	NP_001001794	WXS	Illumina GAIIx	Phase_I	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	522	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	150					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.450G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	4.307	0.056165	0.08291	.	.	ENSG00000205593	ENST00000433760	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71307	-0.4632	4	.	.	.	-31.3506	16.7848	0.85571	0.0:1.0:0.0:0.0	.	.	.	.	K	122	.	.	R	-	2	0	FAM116B	49098297	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.448000	0.52943	2.504000	0.84457	0.305000	0.20034	AGA		0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		14	18	0	0	0	1	0	14	18				
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr19:38959963G>T	ENST00000359596.3	+	27	3575	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000355481.4_Missense_Mutation_p.S1192I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGTCTGCAGCTTGGGACCT	0.647																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3574-3576)aGc>aTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						71.0	70.0	71.0					19																	38959963		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959963G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3575G>T	19.37:g.38959963G>T	ENSP00000352608:p.Ser1192Ile		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	p.S1192I	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3705	+	all_cancers(60;7.91e-06)		1192			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3575G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	9.502	1.103431	0.20632	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70986	-0.53;-0.53;-0.53	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.236375	0.28853	U	0.013934	D	0.87565	0.6209	H	0.95539	3.685	0.35819	D	0.82446	D;D	0.89917	0.993;1.0	P;D	0.83275	0.899;0.996	D	0.92881	0.6323	10	0.87932	D	0	.	12.332	0.55046	0.0:0.1718:0.8282:0.0	.	1192;1192	P21817-2;P21817	.;RYR1_HUMAN	I	1192	ENSP00000352608:S1192I;ENSP00000347667:S1192I;ENSP00000354254:S1192I	ENSP00000347667:S1192I	S	+	2	0	RYR1	43651803	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.220000	0.51207	1.900000	0.55004	0.434000	0.28630	AGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	34	0	0	0	1	0	22	34				
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr17:44159834C>T	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000572904.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000432791.1_Silent_p.V502V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	502					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GATCTGTCTTCACCTCAGAAC	0.428																																						uc002ikc.3																			0											c.(1504-1506)gtG>gtA		Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.							81.0	80.0	80.0					17																	44159834		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44159834C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1506G>A	17.37:g.44159834C>T			Somatic				KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V	p.V502V	NM_001193466	NP_056258	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			3	1977	-			502					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.1506G>A	CCDS11503.1																																																																																				0.428	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	27	0	0	0	1	0	4	27				
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr17:71380017G>A	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1568	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4702-4704)aCc>aTc		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							93.0	79.0	84.0					17																	71380017		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380017G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4703C>T	17.37:g.71380017G>A	ENSP00000376421:p.Thr1568Ile		Somatic				SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	p.T1568I	NM_001144952	NP_001138424	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			32	4703	-			1568			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4703C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657890	0.29425	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.61510	0.1;0.22;0.22	5.47	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104467	0.64402	D	0.000004	T	0.58481	0.2125	M	0.74647	2.275	0.24991	N	0.991536	B;B;B	0.33212	0.402;0.006;0.021	B;B;B	0.33620	0.167;0.021;0.059	T	0.55698	-0.8100	10	0.45353	T	0.12	.	13.6786	0.62469	0.0752:0.0:0.9248:0.0	.	1568;1568;1568	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	I	1192;1568;1568;744;1568	ENSP00000376421:T1568I;ENSP00000373378:T1568I;ENSP00000407098:T744I	ENSP00000324967:T1568I	T	-	2	0	SDK2	68891612	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	6.424000	0.73366	1.303000	0.44873	0.561000	0.74099	ACC		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	25	0	0	0	1	0	13	25				
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	T	C	rs186195231	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr11:58604779T>C	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	93						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393													T|||	16	0.00319489	0.0	0.0014	5008	,	,		20530	0.001		0.0	False		,,,				2504	0.0143					uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(277-279)aAt>aGt		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)	T	SER/ASN	0,3718		0,0,1859	225.0	208.0	213.0		278	1.9	0.0	11		213	8,8188		0,8,4090	yes	missense	GLYATL2	NM_145016.3	46	0,8,5949	CC,CT,TT		0.0976,0.0,0.0671	benign	93/295	58604779	8,11906	1859	4098	5957	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604779T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.278A>G	11.37:g.58604779T>C	ENSP00000287275:p.Asn93Ser		Somatic				GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	p.N93S	NM_145016	NP_659453	WXS	Illumina GAIIx	Phase_I	Q8WU03	GLYL2_HUMAN			3	409	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	93					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.278A>G	CCDS41649.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	7.585	0.669469	0.14776	0.0	9.76E-4	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14266	2.52;2.52	4.24	1.89	0.25635	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.033050	0.07713	U	0.942420	T	0.06554	0.0168	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	5.3587	0.16075	0.0:0.2367:0.0:0.7633	.	93	Q8WU03	GLYL2_HUMAN	S	93	ENSP00000287275:N93S;ENSP00000434277:N93S	ENSP00000287275:N93S	N	-	2	0	GLYATL2	58361355	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.371000	0.20450	0.518000	0.28383	0.524000	0.50904	AAT		0.393	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		25	32	0	0	0	1	0	25	32				
SULT1A1	6817	broad.mit.edu	37	16	28631452	28631452	+	5'UTR	SNP	T	T	C	rs546816346		TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr16:28631452T>C	ENST00000395609.1	-	0	425				SULT1A1_ENST00000350842.4_Missense_Mutation_p.M24V			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGAATGCTCATACCTATTTGC	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		16290	0.0		0.0	False		,,,				2504	0.0					uc002dqm.3																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(70-72)Atg>Gtg		Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA.							102.0	99.0	100.0					16																	28631452		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631452T>C	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-334A>G	16.37:g.28631452T>C			Somatic				NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR	p.M24V	NM_177536	NP_803880	WXS	Illumina GAIIx	Phase_I	P50225	ST1A1_HUMAN			1	459	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395609.1	37	c.70A>G	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	5.489	0.275224	0.10403	.	.	ENSG00000196502	ENST00000350842	T	0.02216	4.39	1.01	1.01	0.19927	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.14578	0.011	T	0.49409	-0.8943	8	0.87932	D	0	.	4.2403	0.10645	0.0:0.0:0.0:1.0	.	24	P50225-2	.	V	24	ENSP00000329399:M24V	ENSP00000329399:M24V	M	-	1	0	SULT1A1	28538953	0.991000	0.36638	0.972000	0.41901	0.424000	0.31475	0.207000	0.17395	0.427000	0.26145	0.076000	0.15429	ATG		0.333	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		11	9	0	0	0	1	0	11	9				
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	T	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr2:166866283C>T	ENST00000303395.4	-	20	3947	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R|SCN1A_ENST00000423058.2_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R1305R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1316					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.0					uc002udo.4																			2	Substitution - coding silent(2)	p.R1305R(1)|p.R1316R(1)	lung(2)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3946-3948)agG>agA		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	8,4398	14.3+/-33.2	0,8,2195	88.0	87.0	88.0		3948,3864,3948,3915	2.3	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,	1316/2010,1288/1982,1316/2010,1305/1999	166866283	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866283C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3948G>A	2.37:g.166866283C>T			Somatic				SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	p.R1316R	NM_001202435	NP_001189364	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			21	4175	-			1316					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3948G>A	CCDS54413.1																																																																																				0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	12	0	0	0	1	0	16	12				
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr8:67089559_67089561delGCG	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	51					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xvy.2																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(151-156)ccgcag>cag		Homo sapiens corticotropin releasing hormone (CRH), mRNA.	Corticotropin(DB01285)			3,13,3098		1,0,1,2,9,1544						-0.8	1.0		dbSNP_107	3	3,36,6773		0,0,3,5,26,3372	no	codingComplex	CRH	NM_000756.2		1,0,4,7,35,4916	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5725,0.5138,0.5541				6,49,9871				SO:0001651	inframe_deletion	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089559_67089561delGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.152_154delCGC	8.37:g.67089565_67089567delGCG	ENSP00000276571:p.Pro51del		Somatic	OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096	CRH_uc022avj.1_In_Frame_Del_p.P51del	p.P51del	NM_000756	NP_000747	WXS	Illumina GAIIx	Phase_I	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	485_487	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	51					B3KQS4	In_Frame_Del	DEL	ENST00000276571.3	37	c.152_154delCGC	CCDS6188.1																																																																																				0.734	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		2	4						2	4	---	---	---	---
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr15:79220056_79220057insT	ENST00000220166.5	-	9	806_807	c.697_698insA	c.(697-699)atc>aAtc	p.I233fs	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	233					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535																																						uc021srk.1																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.e9+1		Homo sapiens cathepsin H (CTSH), mRNA.																																				SO:0001630	splice_region_variant	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79220056_79220057insT	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.699+1->A	15.37:g.79220058_79220058dupT			Somatic				CTSH_uc010unf.1_Splice_Site	p.I233_splice	NM_004390	NP_004381	WXS	Illumina GAIIx	Phase_I	P09668	CATH_HUMAN			9	796	-			233					B2RBK0|Q96NY6|Q9BUM7	Splice_Site	INS	ENST00000220166.5	37	c.699_splice	CCDS10308.1																																																																																				0.535	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390	Frame_Shift_Ins	18	33						18	33	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:24517018_24517019insT	ENST00000379162.4	+	3	555		c.e3+1		PDK3_ENST00000441463.2_Splice_Site|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317																																						uc004dbh.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e3+1		Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24517018_24517019insT	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+1->T	X.37:g.24517019_24517019dupT			Somatic				PDK3_uc004dbg.3_Splice_Site_p.N107_splice	p.N107_splice	NM_001142386	NP_001135858	WXS	Illumina GAIIx	Phase_I	Q15120	PDK3_HUMAN			3	549	+			107					B4DXG6	Splice_Site	INS	ENST00000379162.4	37	c.320_splice	CCDS14212.1																																																																																				0.317	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Intron	3	6						3	6	---	---	---	---
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr8:67089559_67089561delGCG	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	51					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xvy.2																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(151-156)ccgcag>cag		Homo sapiens corticotropin releasing hormone (CRH), mRNA.	Corticotropin(DB01285)			3,13,3098		1,0,1,2,9,1544						-0.8	1.0		dbSNP_107	3	3,36,6773		0,0,3,5,26,3372	no	codingComplex	CRH	NM_000756.2		1,0,4,7,35,4916	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5725,0.5138,0.5541				6,49,9871				SO:0001651	inframe_deletion	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089559_67089561delGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.152_154delCGC	8.37:g.67089565_67089567delGCG	ENSP00000276571:p.Pro51del		Somatic	OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096	CRH_uc022avj.1_In_Frame_Del_p.P51del	p.P51del	NM_000756	NP_000747	WXS	Illumina GAIIx	Phase_I	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	485_487	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	51					B3KQS4	In_Frame_Del	DEL	ENST00000276571.3	37	c.152_154delCGC	CCDS6188.1																																																																																				0.734	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		2	4						2	4	---	---	---	---
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr15:79220056_79220057insT	ENST00000220166.5	-	9	806_807	c.697_698insA	c.(697-699)atc>aAtc	p.I233fs	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	233					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535																																						uc021srk.1																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.e9+1		Homo sapiens cathepsin H (CTSH), mRNA.																																				SO:0001630	splice_region_variant	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79220056_79220057insT	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.699+1->A	15.37:g.79220058_79220058dupT			Somatic				CTSH_uc010unf.1_Splice_Site	p.I233_splice	NM_004390	NP_004381	WXS	Illumina GAIIx	Phase_I	P09668	CATH_HUMAN			9	796	-			233					B2RBK0|Q96NY6|Q9BUM7	Splice_Site	INS	ENST00000220166.5	37	c.699_splice	CCDS10308.1																																																																																				0.535	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390	Frame_Shift_Ins	18	33						18	33	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chrX:24517018_24517019insT	ENST00000379162.4	+	3	555		c.e3+1		PDK3_ENST00000441463.2_Splice_Site|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317																																						uc004dbh.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e3+1		Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24517018_24517019insT	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+1->T	X.37:g.24517019_24517019dupT			Somatic				PDK3_uc004dbg.3_Splice_Site_p.N107_splice	p.N107_splice	NM_001142386	NP_001135858	WXS	Illumina GAIIx	Phase_I	Q15120	PDK3_HUMAN			3	549	+			107					B4DXG6	Splice_Site	INS	ENST00000379162.4	37	c.320_splice	CCDS14212.1																																																																																				0.317	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Intron	3	6						3	6	---	---	---	---
